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CFEH Facebook Case #64

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The multiple large, raised lesions in the right eye are consistent with sclerochoroidal calcification. There is also non-specific pigmentary changes at the posterior pole.

Sclerochoroidal calcification is characterised by benign yellow-white sub-retinal lesions, typically found along the vascular arcades. They are most commonly found in elderly Caucasians. Extended depth OCT imaging has shown these lesions originate from the sclera with thinning of the overlying choroid, as seen in this patient. Lesions have a typically irregular or “rocky” contour, unlike a choroidal naevus or small melanoma which will typically have a gentler, more uniform slope.

Fundus autofluorescence showed mixed hyper- and hypo- autofluorescence of the pigmentary changes noted at the posterior poles. The elevated lesions were hyperfluorescent which is a feature typical of sclerochoroidal calcification. Usually fundus hyper-autotfluoresence is associated with increased lipofuscin, however in this condition it has been proposed that the thinning choroid allows the underlying sclera to hyper-autofluoresce.

While most presentations of this condition are idiopathic, some have systemic associations. A patient diagnosed with sclerochoroidal calcification should be referred for a systemic work-up to screen for calcium-phosphate metabolic abnormalities or renal tubular hypokalemic metabolic alkalosis. There have also been some case reports of parathyroid adenoma with calcium elevation being detected following a diagnosis of sclerochoroidal calcification.


CFEH Facebook Case #63

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Isolated choroidal melanocytosis. This condition falls within the spectrum of oculo (dermal) melanocytosis but affects only the choroid, not the uvea and episclera. Oculodermal melanocytosis typically does affect these other areas as well and is characterised by pigment elsewhere in the uveal tract, or cutaneously in the periocular area (nevus of Ota – imaged below):

 

While isoloated choroidal melanocytosis is rare, a series of 11 cases has been reported in the literature by Ausberger et al. The authors described the clinical characteristics of this condition as “an homogenous area of dark brown pigmentation greater than 5mm in diameter, with complete lesion flatness”, differentiating it from choroidal naevi (typically less than 5mm diameter) and melanocytomas (which are raised).

It is estimated that one in 400 Caucasian patients with ocular melanocytosis will develop uveal melanoma. Unfortunately however, the increased fundus pigmentation in patients with choroidal melanocytosis can make it more difficult to detect a small pigmented melanoma. Augsberger et al. proposed that, based on their histological analysis of the lesions, the increased risk of melanoma in these cases is proportional to the percentage of uvea involved. This would mean that the risk of developing choroidal melanoma in cases such as this is only slightly higher than the general population.

Patients with choroidal melanocytosis require annual monitoring to ensure the early detection of melanotic changes.


CFEH Facebook Case #62

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There are several pathological processes going on in this patient:

1. The marked tortuosity and dilated nature of the veins may indicate a pending central retinal vein occlusion
2. Pachychoroid spectrum disease. The large diameter of the hyper-autofluorescence indicates that this may be a chronic CSCR and the small serous PED surrounding subretinal fluid, indicates active disease.

Measuring the patient’s blood pressure in-office found it to be 160/92. The retinal findings and elevated blood pressure measurements should be communicated to the patient’s GP in a timely fashion with concurrent referral to an ophthalmologist.

For more information on hypertensive retinopathy, possible sequelae and management, please refer to CFEH’s new chairside reference, released June 2017 which covers all you need to know, go to:

https://centreforeyehealth.com.au/wp-content/uploads/2017/06/Chairside-reference-Hypertension.pdf

For further information on pachychoroid spectrum disease, refer to facebook case 55.


CFEH Facebook Case #61

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Reticular macular disease (reticular pseudodrusen)

Colour fundus photography and red free imaging showed a reticular pattern of small, yellow-white, round and/or oval lesions known as reticular pseudodrusen (RPD). Using Infrared imaging (adjacent to OCT line scans), RPD appear as groups of hypo-reflective lesions with larger lesions accompanied by a halo-like appearance or “target” aspect. On OCT, RPD appear as well-defined, hyper-reflective deposits beneath the RPE and ELM or OPL.

RPD is frequently found in eyes with AMD but less frequently than soft drusen. The risk factors associated with RPD are similar to those of AMD and include age, gender, smoking and genetic risk factors. Recent studies have shown that the presence of RPD was a strong risk factor for progression to late-stage AMD and that showed that RPD are associated more strongly with geographic atrophy than with choroidal neovascularisation.

In this patient, other early structural changes that may precede the development of late AMD were also identified including hyper-reflective foci, subsidence of the outer plexiform layer/inner nuclear layer, hypo-reflective wedge-shaped bands consistent with nascent geographic atrophy, sub-RPE hyper-reflective columns and disruption in the ellipsoid zone and external limiting membrane overlying the drusen.


CFEH Facebook Case #60

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OCT imaging of the macula shows increased reflectivity on the posterior cortical vitreous extending from the optic nerve head to the macula. This increased reflectivity is causing the ERM-like appearance seen in the macular photo. There are also some glial remnants visible at the optic nerve head (Bergmeister’s papillae – please refer to Facebook case 28 for further information on this condition). These findings indicate the presence of persistent hyaloid remnants on the posterior cortical vitreous of the right eye.

Persistent remnants of the hyaloid vascular system has been reported in 3% of infants born full-term, and 95% of those born premature. These remnants can often be seen as; Mittenforf dots on the posterior lens capsule (remnants of the anterior portion of the hyaloid artery), a persistent pupillary membrane or as Bergmeisters papille at the optic disc.

The presentation here is more unusual, but not problematic. Routine review is all that is required.


CFEH Facebook Case #59

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The anterior eye photos show left iris hypoplasia and polycoria as well as an inferotemporal corneal opacity. Gonioscopy shows some superotemporal pigment deposition on the endothelium and temporal and inferior synechiae. The trabecular meshwork was visible in at least two quadrants.

Possible causes include trauma and ICE syndrome, although the patient denies any history of ocular trauma or surgery.

ICE syndrome is typically unilateral and is characterised by corneal oedema and iris abnormalities, including atrophy, holes, nodules and pupillary distortion. It is caused by the proliferation of abnormal corneal endothelial cells. These cells grow to form a membrane over the iris and anterior chamber angle. Over time, the contraction of this membrane causes the iris abnormalities and secondary angle closure glaucoma results.

Management of secondary glaucoma associated with this condition is difficult as it is often complicated by corneal oedema.


CFEH Facebook Case #58

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This patient has had a branch retinal vein occlusion some time ago, and subsequently has developed neovascularisation and associated fibrosis which is showing up on OCT as a raised, hyper-reflective lesion above the plane of the retina.

Hypertension and hyperlipidemia can cause areteriolar sclerosis, resulting in compression of the vein at arteriovenous crossings. Other conditions associated with BRVO include diabetes mellitus and peripheral arterial disease. Occlusion of one of the major branch retinal veins (major BRVO) may be either ischemic (2/3 of cases) or non-ischaemic (1/3 of cases) and 65% of BRVO’s are found in the superior-temporal quadrant. Neovascularisation can develop following an ischaemic BRVO, such as in this case.

The potential complications of a BRVO include macular oedema, retinal neovasuclarisation, vitreous haemorrhage and tractional retinal detachment, so treatment is aimed at managing these complications to improve visual acuity and reduce metamorhopsia.


CFEH Facebook Case #57

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The findings are most consistent with congenital stromal corneal dystrophy, which has previously been referred to as “congenital hereditary stromal dystrophy” This is an autosomal dominant dystrophy that is either non-progressive or slowly progressive. Typically, diffuse bilateral corneal clouding is noted with flake-like stromal opacities as seen in the corneal photos. The corneal stroma is affected throughout and anterior corneal surface is unaffected. As is typical, in this case the anterior OCT shows an increased stromal reflectivity in both eyes. Usually, pachymetry will show a thickened cornea, however in this case the cornea is actually at the thin end of normal.

Examination of immediate family members (mother and 2 brothers) revealed a similar corneal appearance in each:


CFEH Facebook Case #56

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Bull’s eye maculopathy. Depigmentation surrounding the fovea can be seen in the retinal photos. OCT imaging shows a marked thinning of the ONL, ELM, ISe and RPE parafoveally. Autofluorescence imaging showed annular hypo-autofluorescence surrounding the fovea with adjacent hyper-autofluorescence both within and outside the hypofluorescent annulus.

A bull’s eye maculopathy is commonly associated with retinal toxicity (chloroquine, hydroxycholoquine, clofazimine) however in this case the patient denied previous use of medications known to cause toxicity. Given this, and the longstanding nature of the night vision problems, the most likely cause is a retinal dystrophy – cone dystrophy, cone-rod dystrophy or Stargardt disease, although the latter is usually associated with retinal flecks so unlikely here.

Referral to a retinal specialist was recommended.

 


CFEH Facebook Case #55

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The notable findings on funduscopy (and seen in the retinal image) include areas of mottled RPE change within and around the macula and near the optic nerve. Fundus Autofluorescence (FAF) shows mixed stippled hyper- and hypo-autofluorescence corresponding to these areas of RPE change. Note that these changes are more evident using fundus autofluorescence than with funduscopy/photography. OCT imaging showed an isolated shallow PED and disruption of the ISe zone with some overlying pigment migration at this point (seen as a hyper-reflective foci on the OCT scan).
These findings are consistent with pachychoroid pigment epitheliopathy (PPE), which is part of the Pachychoroid spectrum of disease. This spectrum is characterised by the common features of increased choroidal thickness, reduced fundus tessellation, drusenoid RPE changes, areas of hyper and hypo autofluorescence that are in excess of RPE changes noted clinically, and the presence of small PEDs overlying areas of thickened choroid.
In addition to PPE, other conditions included in the spectrum include central serous chorioretinopathy (CSCR), polypoidal choroidal vasculopathy (PCV) and pachychoroid neovasculopathy. PPE is likely to be a “forme fruste” manifestation of CSCR as it involves no history of serous macular detachment or sub-retinal fluid but other clinical characteristics are similar.
A recent study showed that in eyes with pachychoroid spectrum disease, the finding of shallow irregular PEDs on OCT (such as in this case), may be a significant indicator of the development of type 1 neovascularisation.


CFEH Facebook Case #54

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There is an anomalous blood vessel which appears to loop and corkscrew around on the nasal aspect of the right disc, suggestive of a shunt vessel. Spectralis OCT through the optic nerve shows a focal hyper-reflective lesion which appeared co-localised with the vascular anomaly seen on the retinal images. An OCT through the right macula showed a number of cystic spaces, consistent with cystoid macular oedema, and accounting for the reduced vision. It also shows a hyper-reflective lesion adjacent to the cystic space at the macula. This is another anomalous blood vessel, visible during the examination but not clear on the Optomap image.

Optomap imaging shows numerous microaneurysms and dot/blot haemorrhages almost 360 degrees in the peripheral retina, a finding present in both eyes. Incidentally, peripheral examination also showed a raised area superiorly to superotemporally in the right eye. Spectralis OCT through this region (below) confirmed the presence of a retinoschisis.

This patient was referred to a retinal specialist ophthalmologist for and opinion and a review of the patient’s vascular risk factors with his GP was also recommended. The anomalous shunt vessel is hypothesized to have developed secondary to a retinal vein occlusion.


CFEH Facebook Case #53

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Posterior polar annular choroidal dystrophy (PPACD)

PPACD is a rare condition characterised by progressive chorioretinal atrophy around the vascular arcades and optic disc. There is typically some preservation of the choriocapillaris at the junction between the area of atrophy and normal which appears as a fringe of hyper-autofluorescence. The OCT images show attenuation of the outer retinal layers with thinning of the outer nuclear layer and an absent IsE zone.

Electrophysiology testing showed findings consistent with PPACD. A full field ERG showed the photopic responses (cone responses) to have slightly delayed b wave of reduced amplitude in both eyes. Pure rod responses were substantially reduced in amplitude with prolonged a and b waves (see image below).


CFEH Facebook Case #52

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Epithelial basement membrane dystrophy (EBMD) – formerly known as map-dot fingerprint dystrophy or Cogan microcystic epithelial dystrophy.

This condition is the most common type of corneal dystrophy, affecting approximately 2% of the population. EBMD has a spectrum of possible presentations, including this one where the patient has “dots”, characterised by round or oval intraepithelial opacities that have a greyish appearance and don’t stain with fluorescein dye. The anterior OCT shows corresponding abnormalities at the basement membrane.

Other presentations can include “maps”, “fingerprint” lines or a “bleb” pattern. Onset is typically in adult life and the condition is often asymptomatic initially but can be associated with painful corneal erosions and visual disturbances (irregular astigmatism and image ghosting). This condition may be degenerative. Initially management of the corneal erosions may include bandage soft contact lenses, lubricating gels or hyperosmotic ointment. More advanced cases may require greater intervention, such as superficial
keratectomy.


CFEH Facebook Case #51

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The patient was referred urgently to the local public hospital ophthalmology clinic where he was diagnosed with posterior scleritis and treated with steroids and NSAIDs. The scleritis was thought to possibly be related to a systemic connective tissue disorder.

Scleritis may be due to infection, autoimmunity or trauma with an autoimmune aetiology being most common. Scleritis is associated with underlying systemic disease in approximately 36–57% of patients. The underlying systemic disease is most often rheumatoid arthritis. Scleritis is a painful, destructive inflammation deep in the sclera that produces uveal effusion and secondary angle-closure glaucoma. It can potentially cause permanent damage to the eye and vision, however early treatment has been shown to be effective in controlling inflammation and limiting visual loss. It can occur in all age groups, with a median age of 50 years.

Posterior scleritis may present with a wide range of clinical signs and symptoms that include periocular pain, headache, pain on eye movement and reduced vision. Clinical findings associated with this condition can include fluid in the Tenon capsule (episcleral space), swelling of the optic disc, a distended optic nerve sheath, retinal detachment and scleral nodules however 17% of cases show no abnormal ocular signs(nodular scleritis). Up to 60% of patients have associated anterior scleritis identified at some stage of the disease process. High penetration OCT and B-mode ultrasonography have been used to show a thickening of the choroid during acute posterior scleritis, decreasing over time with treatment and thickening again with reactivation of the disease.


CFEH Facebook Case #50

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Peripheral retinal examination revealed proliferative diabetic retinopathy (PDR) with a large neovascular sea-fan in the superotemporal arcades not apparent in the posterior pole images. Extensive peripheral haemorrhages, venous calibre abnormalities and retinal ischaemia were also present. The posterior pole image and OCT line scans showed moderate diabetic macular oedema (International Clinical Disease Severity Scale for Diabetic Retinopathy and Diabetic Macular Edema).

By examining the posterior pole in isolation, the level of retinopathy would likely have been significantly underdiagnosed as moderate NPDR with macular oedema. This case highlights the need to examine the peripheral retina in all patients with diabetes.


A recent study in the UK (Talks et al. 2015) has shown that 24% of neovascularisation in diabetic patients occurs outside the area of the posterior pole imaged by two 45 degree images centred around the optic nerve and macula. This indicates that a quarter of all neovascularisation in diabetic patients may be missed by relying on photography of the posterior pole alone. Further studies have indicated that individuals with peripheral diabetic lesions have a greater risk of DR progression. For a summary of the latest literature on this topic, you here.


CFEH Facebook Case #49

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A retained foreign body – the initial injury was caused by a hammer that chipped and the foreign body was never removed. Imaging shows a markedly elevated lesion inferior to the left optic disc with associated retinoschisis, vitreous traction and inferior retinal atrophy. The B-scan ultrasound image below is consistent with a retained foreign body showing posterior shadowing inferior to the disc:

This patient also had narrow, occludable angles and was referred to a retinal specialist.


CFEH Facebook Case #48

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Dominant optic atrophy (DOA), also known as dominantly inherited juvenile optic atropy (DIJOA) or
autosomal inherited optic atrophy.

Both discs show temporal pallor with shallow “saucerised” cupping of the inferior, superior and
temporal neuro retinal rims. These findings are characteristic of optic atrophy. There is diffuse
thinning of the RNFL as seen on red-free, more notable in the left eye. The supero- and infero-
temporal quadrants show marked thinning compared with the normative database on Cirrus, and
ganglion cell analysis shows marked thinning that is symmetrical between the two eyes.

DOA is an inherited bilateral optic neuropathy. Presentation is usually in the first or second
decade of life, however it can present later in life (as in this case). Presenting signs and
symptoms include a slow, progressive, insidious decrease of vision. The degree of loss can vary
significantly both between and within families, with vision usually in the range of 6/9 – 6/30.

Inheritance is autosomal dominant with penetrance of 43-100%, depending on the family. The main
gene responsible is OPA1, this being the affected gene in 75% of cases. 20% of cases of DOA are
“syndromic”, meaning they have associated systemic signs, including neurosensory
deafness, myopathy, peripheral neuropathy, stroke, multiple sclerosis or progressive external
ophthalmoplegia.


CFEH Facebook Case #47

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This patient has notable thinning of both the superior and inferior neuro retinal rim and retinal nerve fibre layers in the right eye. A tentative diagnosis of normal tension glaucoma was proposed, however given the low risk profile in conjunction with the IOP and other clinical results being symmetrical, the patient was referred for an MRI to rule out neurological causes.

The MRI results showed a right pituitary adenoma with associated cystic degeneration. The patient was subsequently referred to a neurologist and an endorcrinologist.

The clinical pearl here is that in cases of asymmetrical RNFL loss, neurological causes must be excluded.


CFEH Facebook Case #46

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Bietti Crystalline Dystrophy.

Bietti crystalline dystrophy is characterised by the presence of numerous glistening yellow crystalline deposits distributed throughout the fundus and occasionally also present in the superficial cornea near the limbus. OCT investigations show these deposits may be located throughout all retinal layers but are most commonly found adjacent to the inner side of the RPE. The deposits are less apparent in areas of pigment epithelial atrophy.

A characteristic feature of Bietti crystalline dystrophy is the presence of circular hypo-reflective areas within the outer nuclear layer, termed tubular degeneration or tubular
formation. These areas are typically found where there is damage to the RPE and rarely seen where the RPE is intact. In this case, the deposits are predominantly found in the outer retinal layers. There is loss, attenuation and disruption of the ISe zone, outer retinal layers and choriocapillaris and tubular degeneration can be identified (circled in red on OCT image below).


Fundus autofluorescence highlights the multiple areas of geographic atrophy in this patient. These areas appear densely hypo-autofluorescent with speckled hypo-autofluorescence surrounding them as well as radiating branches of hyper-autofluorescence.

Bietti crystalline dystrophy usually shows an autosomal recessive inheritance pattern and is most common in East Asian populations, particularly those from China and Japan. Presentation is usually in the 4th or 5th decade of life when symptoms start to develop. Presenting symptoms are typically a slow progressive vision loss and nyctalopia. As the condition progresses there is a diffuse atrophy of the choriocapillaris and decrease in size and number of the crystals. The atrophic areas progressively become confluent and extend into the peripheral retina with the end result being diffuse chorioretinal atrophy.

The rate of progression and severity of this condition is quite variable. This patient was referred to a retinal specialist.


CFEH Facebook Case #45

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Maternally Inherited Diabetes and Deafness (MIDD)

This condition is caused by a point mutation in the mitochondrial DNA and is thought to be responsible for between 0.5 and 2.8% of diabetes. It is characterised by maternally inherited diabetes (85% penetrance) and impaired hearing, usually in the high frequencies. The hearing loss is sensorineural and originating from the cochlear rather than the cranial nerve. MIDDS is often accompanied by a pattern macular dystrophy.

The macular dystrophy is characterised by both pigmented retinal lesions and atrophy of the RPE and/or choroid. The pigmented lesions range from appearing small and found at the macula through to radiating patterns surrounding the macula or optic nerve. Visual symptoms can include vision loss, photophobia, night vision problems and scotomas. The OCT images from this patient show some mottling of the RPE and a left micro-hole at the macula with some mottled hyper-autofluorescence, in particular at the fovea.

The age of onset of MIDD is typically between 25 and 35 years of age however it can range from 11 years to 68 years. Onset is usually insidious (such as in Type 2 diabetes), however about 20% of cases have an acute presentation with ketoacidosis occurring in around 8% of cases.

The mitochondrial mutation causing this condition is also responsible for other systemic manifestations, including MEALS (mitochondrial encephalomyopathy, lactic acid and stroke-like episodes); psychiatric disorders (depression, schizophrenia and phobias); myopathy of the proximal limb muscles; endocrine disease, renal disease and rapid onset heart failure in young adults. MIDD increases the risk of developing these conditions.

It was recommended this patient undergo electrophysiological testing to confirm a diagnosis of macular dystrophy. She was also referred to a retinal specialist for confirmation of a diagnosis.


CFEH Facebook Case #44

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Axenfeld-Reiger Syndrome.

This syndrome is primarily an eye condition but may have systemic manifestations. It affects 1 in 200 000 people and has an autosomal dominant inheritance pattern.

Ocular manifestations can include iris atrophy, corectopia (displacement of the pupil), polycoria, corneal abnormalities and hypertelorism (an abnormally increased distance between the eyes). This patient has a large corneal diameter, pupil miosis, superior-nasal displacement of both pupils (more prominent before dilation), left pseudopolycoria, posterior embryotoxin and a moth-eaten appearance to the irides. This anterior segment dysgenesis is consistent with Axenfeld-Reiger syndrome. The synechiae noted on gonioscopy are likely to have resulted from prior surgeries. Optic nerve head evaluation showed thinning of the neuro-retinal rim and enlargement of the cup, while Cirrus OCT shows a marked thinning of the RNFL that is characteristic of glaucoma.

Additional systemic manifestations can include:

  • A flattened midface with broad flat nasal bridge and prominent forehead
  • Microdontia (one or more teeth are smaller than normal)
  • Oligodontia (congenital absence of some teeth)
  • Redundant periumbilical skin (extra folds of skin around the belly button)
  • Heart defect
  • Hypospadias
  • Anal stenosis
  • Pituitary gland abnormalities which can slow growth

CFEH Facebook Case #43

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Differentials based on the information given include small crowded discs, buried disc drusen, optic neuritis, optic atrophy and anterior ischaemic optic neuropathy. Further imaging showed the following:

In this patient, the OCT line scans show an elevation of both optic nerves, however the Cirrus OCT also shows a thinning of the retinal nerve fibre layer in most quadrants as opposed to a thickening as you see in true papilloedema. The fundus autofluoresence shows hyper-reflective “lumps” on the optic nerve head (easier to see on the left eye which has been included here for illustrative purposes). This is a finding characteristic of optic nerve head drusen. Optic nerve drusen occur in approximately 1-2% of the general population, and are usually bilateral (86% of cases). The drusen are typically calcified deposits within the optic nerve head and may be buried or obscured beneath the disc surface (such as in this case), causing pseudopapilloedema. Drusen may enlarge slowly over time and visual field defects are often progressive but they rarely affect functional vision. This patient however was referred to a neuro-ophthalmologist, due to the extent of the field defect at this time. Although no definitive treatment has been identified, IOP reduction may sometimes be used to try and slow the progression of field loss.


CFEH Facebook Case #42

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The patient had conductive keratoplasty (CK), a procedure introduced in 2002 which aims to correct low hyperopia (ideally around +1.50D), or reduce the dependence on reading glasses for presbyopes. In this procedure, the cornea is treated with low level radio-frequency energy in specific areas of the peripheral cornea. The areas treated contract in response, causing a steepening of the cornea thereby reducing hyperopia and/or creating a small amount of myopia to assist with reading. There is typically some regression with time, the procedure often may need to be repeated and is not currently widely used.

The reduced vision, however is caused by likely choroidal neovascularisation at the macula. While the retinal photo does not show marked abnormalities, the OCT line scan show the presence of sub-retinal and intra-retinal fluid, general retinal disorganisation as well as fibrosis, indicative of CNV. This case illustrates the value of OCT imaging in assisting the timely detection of eye disease.


CFEH Facebook Case #41

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Macular Telangiectasia type 2 (Mac Tel 2), stage 2.
The OCT image in the right eye shows disruption of the outer retinal layers with some cystic spaces at the nasal aspect of the lesion. The RPE/Bruchs membrane complex is very irregular in the affected region and the pigment plaque in this eye corresponds with increased intraretinal reflectivity. Looking at the left macular OCT, there is also some disruption of the outer retinal layers, including disruption of the ellipsoid zone.

Mac Tel 2 is a bilateral perifoveal vasculopathy of unknown cause, however a genetic component to this disease is highly likely. Prevalence is 0.1% of the general population. Symptoms typically start in the 5th or 6th decade of life and the early signs may be very subtle.

Signs and symptoms are typically limited to mildly reduced visual acuity and metamorphopsia, both of which are subtle at first but increase as the disease progresses. Typical clinical findings include a dulling or loss of the foveal reflex, a greying of the parafoveolar area, small foveal cystoid changes and pigment clumping. A pseudo-vitelliform lesion can also form in the central macula.
Fundus autofluorescence imaging can also be useful in evaluating MacTel 2. Areas of photoreceptor atrophy appear hyperfluorescent when a pseudovitelliform lesion develops and RPE atrophy appears hypofluorescent.

The normal central attenuation of FAF may be lost in eyes with MacTel2

.

The literature identifies 5 stages of the disease process with stage 5 (proliferative stage) characterised by the formation of subretinal neovascularisation. This stage is accompanied by retinal oedema, yellow exudates, subretinal / intraretinal haemorrhages and, over time, retinal fibrosis.

There is no treatment for the pre-proliferative stages, however photodynamic therapy may be useful in decreasing vision loss in the proliferative stages.


CFEH Facebook Case #40

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The appearance of the lesion is consistent with solitary idiopathic choroiditis (SIC), however further assessment by a retinal specialist was recommended to confirm this.

Solitary idiopathic choroiditis may appear at any age, however patients are typically Caucasian and present between 20 and 50 years of age. Visual acuity is usually normal, unless the lesion affects the foveal region. Differential diagnoses include amelanotic choroidal tumour (such as melanoma, naevus and osteoma) and ocular inflammation such as sarcoidosis, tuberculosis and toxocariasis.

The appearance of the SIC lesion may vary, depending whether it is active or inactive. Inactive lesions typically appear as a discrete, round yellow-white lesion that has a characteristic orange-yellow halo around the lesion, as can be seen in this patient. Fundus autofluorescence imaging typically shows homogenous hyper-autofluorescence and OCT imaging shows these lesions to be smooth and dome-shaped with the overlying choroid appearing compressed or thinned. Recent studies using enhanced depth imaging OCT now suggest that the lesions may extend into the sclera and are not just limited to the choroid as previously thought.

Active lesions appear a dull yellow colour with ill-defined margins, sub-retinal fluid with yellow intra-retinal exudative material. Focal haemorrhages may occasionally also be noted.

This case was referred to ophthalmology for confirmation of the diagnosis.


CFEH Facebook Case #39

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This patient has a nasal staphyloma as seen in the OCT image. With her prescription which corrects for her foveal vision in place – as typically recommended by the instrument’s algorithm – the light falling on the nasal retina would be defocussed as the retinal plane is bowed posteriorly in the region of the staphyloma (by definition). This has caused a corresponding apparent temporal field depression in the initial visual field examination.

Upon re-examination, an additional -2.00DS was added to the patient’s prescription for the purposes of the field test. This focussed the light more accurately in the area of the staphyloma, as the light rays are more diverged, causing the apparent temporal depression to disappear. However the light falling on the temporal (non-staphylomatous) retina is now defocussed, with light rays too divergent for the retinal plane in this region, causing an apparent nasal field depression instead.

Thus, a simple increase in myopic correction to correct for different retinal planes has caused an apparent reversal of the field defect. One differential for a temporal field defect such as was seen on initial examination would be a chiasmal lesion. Demonstration of reversal of a field defect such as in this case, would suggest that that defect is likely to be optical in origin rather than pathological.


CFEH Facebook Case #38

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Solar retinopathy.

Solar retinopathy is a photochemical retinal injury caused by either direct or indirect viewing of the sun. The risk of damage is higher in patients taking drugs causing photosensitivity such as tetracycline, isoretinoinand psoralens, while it is reduced in patients with darkly pigmented retinae and those with high refractive errors. In this case the patient in question was suffering from a mental disturbance that caused him to stare at the sun for 3 hours 20 minutes approximately 3-4 months prior to his examination at the Centre.

Symptoms of solar retinopathy include decreased vision (in the range 6/7.5 – 6/30) with associated central scotomas. Metamorphopsia, dyschromatopsia, micropsia and headaches occurring within hours of exposure are also commonly experienced.

Fundus findings initially include a yellow-white spot in the fovea, sometimes changing to a red spot with a pigmented halo over several days. On fundus autofluorescence, solar retinopathy appears as hypo-autofluorescence at the fovea surrounded by an irregular ring of hyper-autofluorescence. OCT imaging typically shows disruption of the inner and/or outer segments of the photoreceptor layers, either with or without RPE defects. The literature indicates that defects of the inner photoreceptor segment are associated with worse VA than defects in either the outer segment or RPE.

There may also be a transient increase in foveal reflectivity and reduced reflectivity of the RPE. There is no effective treatment for solar retinopathy. In many cases, visual acuity may recover to normal, however some patients have residual small central or paracentral scotomas. The extent of damage and prognosis are dependent on many factors including the duration and intensity of the light source during exposure, ocular pigmentation, ocular media clarity and environmental conditions.

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CFEH Facebook Case #37

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The patient’s fibrotic scar was most likely due to a large macular haemorrhage. Given the patient history of acute vision loss while undertaking heavy lifting, this was most likely a Valsalva retinopathy.

Valsalva retinopathy is a preretinal haemorrhage that usually involves the macula. It is associated with a history of straining (eg coughing, vomiting, Valsalva manoeveur, weight lifting etc). It is thought that closure of the glottis causes an acute rise in intrathoracic or intraabdominal and associated rapid increase in intraocular venous pressure, leading to capillary rupture.

The macular haemorrhage in some cases may resolve without intervention, returning the vision to normal or near normal. In cases where dense premacular haemorrhages affect vision. Nd:YAG laser may be used to puncture a hole in the posterior hyaloid and drain the blood into the vitreous cavity. This procedure has several potential complications however, including retinal detachment, ERM and macular hole formation.


CFEH Facebook Case #36

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The follow up OCT shows the presence of sub-retinal fluid, indicating this is likely to be neovascular (late) AMD. In this case, OCT imaging has allowed early detection of the change in the absence of any symptoms and minimal to no change in the fundus photographic image.

Twelve months previously, this patient was assessed as having a single large (confluent) drusen in the right eye and pigmentary changes as well as medium and small drusen. The left eye had medium and small drusen. At this time according to the Beckman AMD classification, the patient had intermediate AMD in the right eye and early AMD in the left, giving an approximate risk of conversion to neovascular AMD of 12% within five years.

This case illustrates the importance of using OCT imaging on all AMD patients. With many practices now equipped with OCT technology, CFEH has produced an AMD chairside reference guide to help optometrists in the interpretation of the scans produced.

The reference can be downloaded free by clicking here. OCT imaging is also available free to all patients through CFEH. Click here to download a referral form.


CFEH Facebook Case #35

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Pathological Myopia.

The Optomap images show significant chorioretinal atrophy centrally, as well as pigment degeneration peripherally. The fundus auto-fluorescence imaging reveals multiple zones of hypo-fluorescence – around and inferior to the optic disc, inferior to the macula and extensively throughout the periphery.

The OCT shows a posterior staphyloma (an elongation of the globe resulting from scleral thinning) and a mirror artefact – often seen in high myopia. These retinal changes are consistent with pathological (high/degenerative) myopia. Pathological myopia is the progressive and excessive elongation of the globe, causing secondary changes involving the sclera, retina, choroid, vitreous, macula and optic nerve head. It is defined as myopia with a spherical equivalent refractive error of -6.00 DS or greater or an axial length above 26mm.

The following are all conditions that may be associated with pathological myopia:

  •  Posterior staphyloma
  • Pigmentary glaucoma/steroid response
  • Tilted/obliquely inserted ONH with temporal crescent (myopic conus)
  • Low-tension open angle glaucoma
  • Vitreoretinal interface disturbances
  • Retinoschisis
  • Vitreous syneresis & premature PVD
  • Macular holes (lamellar, full thickness)
  • Retinal breaks or detachments
  • Paravascular intraretinal cleavage, lamellar holes and cysts
  • Early cataract
  • Tractional ILM detachment
  • Pseudoexophthalmos
  • Peripapillary intrachoroidal cavitation
  • Large exophoria or exotropia
  • Progressive thinning of the choroid
  • Lacquer cracks
  • Macular geographic atrophy
  • Choroidal neovascular membrane
  • Forster – Fuch’s spot

 

For a detailed discussion of pathological myopia, log in to Learning for Vision if you are a member or create a new account then click here.

 


CFEH Facebook Case #34

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ANSWER

Differentials include: iris leiomyoma, iris melanoma, iris naevus and a metastases from a primary tumour elsewhere. The reported stability of the lesion makes it less likely to be a melanoma or metastases, however a final diagnosis can only be made following a biopsy.

Imaging shows the lesion to be a raised, amelanotic lesion with defined margins and a lobular vascularised surface at the nasal peripheral iris of the left eye. Anterior OCT shows shows no invasion of the lesion into the angle and shows the anterior surface to be hyper-reflective.

An iris amelanotic melanoma is a non-pigmented, benign nodular tumour that is typically found on the inferior iris, usually associated with superficial blood vessels. They are usually at least 3mm in diameter and 1mm thick and exhibit slow growth with extension across the iris surface. This expansion gives rise to the possibility that the angle and anterior ciliary body may be infiltrated. Thus, complications of amelanotic iris melanomas can include pupillary distortion, ectropian uveae, hyphema, cataract and glaucoma.

An iris leiomyoma is an extremely rare benign tumour with an appearance similar to an amelanotic melanoma. Iris leiomyomas are tumours that originate from the smooth muscle, typically this is the sphincter muscle but less commonly can also be the dilator muscle. The mass is typically vascularised, either flat or slightly elevated and usually remains stationary over many years. They are usually found at the region of the sphincter muscle, although rarely can also be found in the iris periphery and anterior chamber angle. Leiomyomas can appear either non-pigmented, lightly pigmented or transparent (greyish white or pinkish). Complications may rarely include secondary glaucoma and decreased vision if the leiomyoma affects the visual axis.

This lesion needs to be referred to an ophthalmologist for a likely biopsy.


CFEH Facebook Case #33

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ANSWER

OCT-Angiography at CFEH

OCTA is a non-invasive, high-resolution imaging method of visualising microvasculature by detecting motion contrast from flowing blood (without the injection of dye).  This emerging technology has great potential for clinical practice as a quick, low risk means of assessing retinal vasculature.  Conditions where OCTA may provide significant benefit include:

  • Inner retina disease (retinopathies, vascular acquired or congenital disorders and malformations such as
    • Epiretinal membranes
    • Coat’s disease
    • MacTel
    • Macroaneurysm
    • Diabetic retinopathy
    • Cotton wool spots
    • Retinal vein occlusion
  • Outer retinal or choroidal disease (choroidal neovascularisation, age related macular degeneration)
  • Disc perfusion abnormalities (eg glaucoma, ischaemic optic neuropathy, optic neuritis)
  • Anterior eye vascular anomalies (eg iris and corneal neovascularisation)
  • Pigmented lesions

The Centre for Eye Health utilises this new technology where appropriate for a greater understanding of the disease process in suitable patients.  To refer a patient for OCTA imaging, please download the referral form here.


CFEH Facebook Case #32

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ANSWER

Birdshot chorioretinopathy (later stage).

Retinal photography and Optomap imaging showed yellow-orange spots deep to the retina scattered throughout the posterior pole and nasal to the disc. Fundus autofluorescence imaging shows mild hyperfluorescence of the lesions. Spectralis OCT imaging of the lesions show increased signal transmission through to the choroid, suggesting mild RPE thinning in these areas.

There is mild preretinal fibrosis inferior to the macula. This clinical picture appears consistent with the diagnosis of birdshot chorioretinopathy. Birdshot chorioretinopathy is a rare disorder that falls under the umbrella of conditions known as white dot syndrome. White dot syndromes are thought to manifest from inflammation of the choriocapillaris and RPE.

It most commonly affects women aged between 40 and 70 and can be associated with infections such as cytomegalovirus, cat scratch disease and Lyme disease, as well as vasculitis and uveitis. Some association has been made with birdshot chorioretinopathy and the HLA-A29 gene, and it has been postulated that the condition may result from a compromised immune system. The condition typically exhibits multiple cream-coloured oval lesions that appear to radiate from the optic disc. Patients can experience blurred vision, poor night vision, increased light sensitivity, paracentral scotomas, floaters and problems with colour vision.


CFEH Facebook Case #31

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ANSWER

1. Amelanotic choroidal naevus
Choroidal naevi are common, benign findings, typically found on routine fundus examination. A minority of these lesions, such as this one, are “amelanotic” as they do not display the typical greyish colouring.
The presence of overlying drusen is an indication of chronicity of the lesion and thus a reduced risk of progression. The risk factors for malignant transformation of a naevus include the following:
o Thickness > 2mm
o Presence of subretinal fluid
o Lipofuscin (orange pigment) overlying the lesion
o Presence of symptoms
o Location < 3mm of the foveola or at/near the optic disc
In this case, a review cycle (including fundus photography and OCT) at 3 months, 6 months, then annually once stability is confirmed, is recommended due to the proximity to the foveolar.

2. Reticular pseudodrusen
These intriguing lesions, also known as subretinal drusenoid deposits, were first described in the literature relatively recently (in 1990) and carry a high association with late AMD. They have featured in a previous Learning for Vision condition spotlight. Click here for more information.


CFEH Facebook Case #30

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Familial Dominant Drusen (Also known as Doyne’s honeycomb dystrophy or Malattia Levantinese)

This condition was covered a couple of months ago in our Facebook case presentations (case 15). However, this is a vastly different and more advanced case.
Familial dominant drusen is typified by a bilateral, relatively symmetrical distribution of drusen, most prominent temporal to the macula, but also seen outside the vascular arcades and nasal to the optic nerve head. The peripheral retina normally remains free of drusen.

Historically, there were two conditions defined in the early literature as separate entities: Doyne’s honeycomb dystrophy described a presentation similar to that seen in this patient, while Malattia Leventinese specifically referred to drusen radiating temporally from the fovea. Further studies later revealed that the two conditions both occur due to a single defect in the gene that codes for the protein fibrillin 3, and were in fact different expressions of the same disease.

As both this and case 15 illustrate, the phenotype is extremely variable. This patient has an advanced form of the disease with large, coalescent drusen, RPE irregularities and disruption of the outer retinal layers. Some patients with this condition may develop choroidal neovascularisation, however in this case there was no obvious evidence of current exudative changes.


CFEH Facebook Case #29

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The lesions are most likely peripheral choroidal neovascularization (CNV) – there are 2 associated haemorrhages and a fibrous component to the choroidal lesion, suggesting this diagnosis.

This type of choroidal neovascularization results in an increased risk of macular CNV as well as sub-retinal haemorrhages and can be associated with polypoidal choroidal vasculopathy (PCV).

The incidence of PCV is high in African Americans, moderately high in Asians, and relatively low in Caucasians. It is a chronic vascular abnormality of choroidal blood vessels with persistent serous leakage and recurrent bleeding. The usual age of onset is between 60 and 70 years. It is characterised by branching choroidal vessels with aneurysmal dilations, which appear as red/orange structures in the macular and/or peripapillary areas. These lesions can be seen in some eyes during fundoscopy, but are more easily visualised with fluorescein angiography (FA) and indocyanine green angiography (ICGA). PCV lesions in the peripheral fundus such as in this case have also been reported but are less common.

Although the lesion in this case is unlikely to require treatment, referral to a retinal specialist is still necessary.


CFEH Facebook Case #28

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ANSWER

Bergmeisters papilla – a persistent remnant of the hyaloid artery

During gestation the hyaloid artery nourishes the developing crystalline lens. The artery is surrounded by a perivascular sheath and before birth this artery regresses, however this regression is sometimes incomplete. Remnants of this artery can be seen in 95% of premature infants and 3% of full term infants.

The term Bergmeisters papillae can be used to describe persistence of either the central vascular core (as in this case) or of the fibroglial sheath. The latter appears as a tuft of glial tissue that is most commonly located on the nasal aspect of the disc – although this can be highly variable.

This finding is of minimal clinical significance.

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CFEH Facebook Case #27

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Melanocytoma of the optic nerve head

This patient has an irregularly pigmented dark lesion that is located partly on the disc, extending over the superior margin and onto the retina.  The disc margins appear somewhat undefined.  The OCT line scans show a dome-shaped elevation at the superior aspect of the disc, with posterior optical shadowing.  The b-scan ultrasound shows a small area of hyper-reflectivity at the right optic nerve head, indicating an elevated and probably solid lesion.

A melanocytoma of the optic disc is a typically benign pigmented tumour.  It is a variant of a naevus and can also involve the uveal tract (iris, ciliary body and choroid).  They usually present as an isolated entity, with no proved systemic associations, and rarely cause visual impairment, however associated complications may occasionally occur.  These complications can include disc oedema, intraretinal oedema, subretinal fluid, retinal haemorrhage and exudation, central retinal vein occlusions, neuroretinitis and malignant transformation (1-2% of cases).Melanocytoma has equal incidence in all races with a slight predilection for females.  It is typically unilateral although bilateral cases have been reported in children.  Lesions are typically small with average measurements of 2mm in diameter and 1mm in apical thickness.

Recommended management involves 6-12 monthly review (depending on the level of risk or concern over malignancy).  Examination should include stereoscopic examination, photography, OCT and automated perimetry.


CFEH Facebook Case #26

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Right eye – glaucoma suspect. Left eye – (pre-perimetric) primary open angle glaucoma

The small, tilted and obliquely inserted discs complicate a glaucoma assessment. Similarly high myopia and associated staphylomas can also lead to variable imaging and visual field results, in particular with respect to normative comparisons. As a result, the complete clinical picture needs to be assessed to arrive at an appropriate diagnosis.

Pigment dispersion syndrome (PDS) is usually characterised by two or more of: iris transillumination, pigment deposition on the central corneal endothelium and increased pigmentation of the trabecular meshwork (Balidis et al., 2002). In this case, a diagnosis of PDS is not appropriate given the sparse nature of endothelial pigment deposition in conjunction with a lack of transillumination defects.
There is no evidence of glaucomatous thinning of the NRR or OCT RNFL and GCA in the right eye. In conjunction with variable visual fields results showing no repeatable loss, the right eye was classified as a glaucoma suspect.

The left NRR was thin inferiorly with stereo assessment with a correlating relative thinning of the OCT RNFL and GCA analysis (despite being classified as within the normal range). Given that the IOP was elevated but there was no repeatable field defect, the left eye was classified as having pre-perimetric primary open angle glaucoma.

A prostaglandin analogue was prescribed for the left eye only, lowering the IOP to 15mmHg. The patient is now undergoing collaborative care with the referring optometrist and CFEH’s Glaucoma Management Clinic.


CFEH Facebook Case #25

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ANSWER

Radial retroiridal pigmented lines
The pigment originates from constant abrasion of the posterior layers of the iris with the anterior surface of the lens. The release of pigment is possibly associated with age-related changes of the iris pigmented epithelium being decrease in melanin and vacuolization as well as necrosis of the pupillary border. Radial retroiridal pigmentation was previously thought to be remnants of the tunica vasculosa retroiridalis however observations of the sign mainly in adults and not children did not support this theory.

Clinical features: Radial retroiridal pigmented lines can occur in one or both halves of the lens periphery and on occasions the whole circumference of the lens, usually in the lower nasal quadrant. The central pupillary area is commonly absent of pigment. Radial pigmentation is usually seen in patients after the 5th decade of life.

Clinical implications: Radial retroiridal pigmented lines were more likely seen in hyperopes which may be associated with crowding of the anterior segment structures causing more abrasion of the iris on the lens. Given that radial pigmentation is a possible risk factor for development of glaucoma in particular related to pigment dispersion, a glaucoma work-up including gonioscopy, applanation tonometry should be performed and these patients closely monitored.

Systemic Associations: It has also been suggested that these pigmented lines can be associated with diabetes and arteriosclerosis.


CFEH Facebook Case #24

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ANSWER

Leber’s Hereditary Optic Neuropathy.
LHON usually affects men with onset between ages 10 and 30 years of age. There are often no symptoms until an acute, severe painless loss of vision is experienced with acuity less than 6/60 and central or cecocentral field loss. This loss of vision is usually permanent, however a small percentage (10-20%) do recover some vision.

Approximately a quarter of all cases are bilateral at onset, however unilateral cases will typically also start to show symptoms in the other eye 2-3 months after the first eye becomes symptomatic. The fundus can either appear entirely normal (20% cases), or can show pseudopapilloedema, peripapillary telangiectasia and tortuosity of retinal arterioles. Fundus findings may be subtle but can preceed vision loss. Atrophy of the optic discs can be seen within 6 weeks of the acute vision loss, a finding that is accompanied by a dense central scotoma.

Pathologically, there is damage to the retinal ganglion cells, axonal degeneration and demyelination then atrophy from the optic nerve back to the Lateral Geniculate Nucleus. The RPE and photoreceptor layers are spared.

LHON arises from a mutation in the mitochondrial DNA, affecting the genes that code for NADH Dehydrogenase protein which is required for normal mitochondrial phosphorylation. The mutation is inherited only from the mother.

Non-symptomatic carriers of the gene mutation have been found to show a temporal thickening of the retinal nerve fibre layer (Savini et al. 2005), and may also show a subtle impairment of optic nerve function, including reduced contrast sensitivity, altered colour vision
and subnormal electrophysiology results (Sadun et al. 2006)

No treatment has been shown to be effective, although new medical and gene therapies remain under investigation. Genetic counselling and referral to low vision services are recommended.

 


CFEH Facebook Case #23

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Lattice Degeneration with a sub-clinical retinal detachment.

The Optomap image shows an oval, white/gray band at the inferior temporal equator. The orientation of the lattice is parallel to the ora serrata. The white lines crossing the lattice represent sclerosed blood vessels.  Over time, lattice degeneration shows increased pigmentation and retinal thinning, possibly resulting in retinal holes.

OCT imaging of this band of lattice shows thinning of the retina (this is seen in the horizontal line scan, by comparing the retina at the left side to the right side of the image). There is also vitreoretinal traction resulting from the strong adhesion of the vitreous to the lattice.  This has resulted in a retinoschisis (splitting of the retina) as can be seen most clearly in the horizontal OCT line scan, and also a sub-clinical retinal detachment where the sensory retina has separated from the RPE.  This detachment can be seen in the right hand side of the vertical line scan.

Other findings evident on the Optomap image include a posterior vitreous detachment (as evidenced by the dark floater seen below the optic disc) and spots of chorioretinal atrophy temporal to the area of lattice degeneration.

Lattice degeneration is found in 6-10% of the normal population.  It first appears in young patients with a peak incidence in 2nd-3rd decade of life and is bilateral in up to half of all cases.  It is most commonly found in the superior and temporal retinal periphery and is more commonly seen in myopes.  In an acute PVD, tears may develop along the posterior edge of the lattice.

This patient was referred to a retinal specialist for consideration of prophylactic treatment.  For patients with lattice and no associated detachment or tear, an annual dilated fundus examination is recommended with advice to return urgently if any new signs or symptoms occur.  Scleral indentation and OCT imaging is highly recommended as these can detect any anomalies such as the sub-clinical detachment seen in this patient.


CFEH Facebook Case #22

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ANSWER

A coloboma.

A typical coloboma forms as a result of the embryonic fissure failing to close completely during development. During normal development, the fusion of the embryonic fissure begins at around 33-40 days post conception. A coloboma occurs when there is a fault in this closure process, with the location of the anomaly determined by the location of the closure fault. The size of the coloboma can be variable depending on how much of the fissure fails to fuse. Typically colobomas are found inferior-nasally.

Colobomas can occur in the retina/choroid, the optic nerve and/or the iris and if a coloboma is found in one location, a complete examination should be performed as it may also be present in additional locations. Optic disc colobomas cause the disc to appear enlarged and excavated, often more so in the vertical meridian. Location is usually at the inferior aspect of the disc so the inferior neuro-retinal rim is typically either thin or absent, and normal disc tissue is confined to a small superior wedge. Visual acuity is often decreased and there is an associated superior scotoma.
In this case, the patient has a large coloboma in both eyes. The optic disc is completely involved in the right eye and partially in the left. The excavation of both can be appreciated by looking at the B-scan ultrasound. There was an associated iris coloboma inferiorly in the right eye. The left eye still had some macula function as the edge of the coloboma is adjacent to the macula rather than encompassing it as it does in the right eye (fig 2 below).
Colobomas may show either autosomal dominant or autosomal recessive inheritance or may be an isolated anomaly. Another cause may be teratogens – agents that disturb the normal development of an embryo or foetus. These include exposure to thalidomide in the first trimester and possibly LSD ingestion, although the evidence for this is not conclusive. Various other genetic disorders also have coloboma as a rare manifestation, however the correlation is, again, lacking in conclusive evidence.
For more information on this condition and other neuro retinal rim anomalies, a video lecture on this topic is available through Learning for Vision – click here

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CFEH Facebook Case #21

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Ocular Albinism

The anterior eye image shows transillumination defects while the Optomap image suggests reduced retinal pigmentation and the OCT line scans reveal foveal hypoplasia (an absence of foveal reflex and foveal pit). These findings, and the reduced visual acuities suggest a diagnosis of ocular albinism.

Foveal hypoplasia is a common to all types of ocular albinism, however this can be variable in its magnitude and is important in determining visual acuity. The degree of hypopigmentation varies according to the type of albinism. Other associated signs and symptoms can include reduced visual acuity, photophobia, congenital nystagmus, refractive errors, prominent choroidal vasculature, optic disc hypoplasia and transillumination defects.

Ocular albinism usually shows an x-linked inheritance pattern, although occasionally can be autosomal recessive. Female carriers of the x-linked type can show partial iris translucency and scattered areas of depigmentation but are otherwise asymptomatic.
As part of the optometric management, an optic nerve head assessment, gonioscopy, visual fields and IOPs should be performed to exclude pigment dispersion syndrome. Management options for ocular albinism include low vision aids, tinted lenses and consideration of genetic counselling.


CFEH Facebook Case #20

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Punctate inner choroidopathy (PIC)

PIC is a relatively uncommon inflammatory condition that is one of the “white dot syndromes’.  Characteristic fundus findings include multiple yellow-white lesions at the level of the choroid and RPE, usually limited to the posterior pole, which leave atrophic pigmented scars on resolution.  Initial presentation is usually associated with a loss of central visual acuity, photopsia and scotoma.  PIC predominantly affects young myopic females.

The visual prognosis for most patients is good, however for a small percentage of patients there is a moderate risk of developing irreversible vision loss due to associated choroidal neovascularization (CNV) or sub-retinal fibrosis.  These usually occur within 12 months of initial presentation.  In the absence of symptoms, regular optometric reviews, Amsler grid home monitoring and periodic OCT imaging is required to monitor the condition and allow detection of vision threatening CNV.


CFEH Facebook Case #19

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Unilateral chorioretinal folds

The horizontal stripes in the left fundus image are suggestive of chorioretinal folds. These are parallel grooves in the inner choroid, also normally involving Bruch’s membrane the RPE and possibly the retina. A vertical line scan through the left fundus clearly demonstrates the nature of these folds.

Chorioretinal folds tend to appear as yellow streaks in the fundus (due to the stretching of the RPE) alternating with darker streaks (RPE compressions). By contrast, retinal folds not involving the choroid are more likely to present with streaks of a finer appearance.

The aetiology of chorioretinal folds is varied. Idiopathic chorioretinal folds are usually asymptomatic with a bilateral presentation and they are most often found in hyperopes. Other more sinister causes can include ocular hypotony, retrobulbar tumours, choroidal tumours, choroidal neovascularization and papilloedoma. Hence, a new discovery of chorioretinal folds requires further investigation (often with fluorescein angiography and/or neurological scans) to exclude any pathology within or behind the eye. Patient symptoms such as metamorphopsia would suggest this to be a newly formed condition, increasing the urgency of these investigations.


CFEH Facebook Case #18

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Terrien’s marginal degeneration

The slit lamp images show fine, superficial vascularization extending from the limbus, irregular yellow lipid deposits and corneal opacification/scarring.  Anterior OCT images (below) show thinning of the cornea with a thickness measurement in the lower scan of just 213µm

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Terrien’s marginal degeneration typically shows superior thinning of the cornea with associated lipid deposit and neovascularization.  Those with this condition often have reduced vision associated with against the rule astigmatism.  The corneal epithelium remains intact in this condition, so the area will not stain with fluorescein.

There are two types of presentation.  The first is a non-inlfammatory type that typically presents in males over 40 years of age and has a slow rate of progression.  The second is associated with episcleral and scleral inflammation and presents in patients aged 20-30 years of age.  This second type has a more guarded prognosis with patients at risk for corneal perforation (particularly following trauma) which would require lamellar keratoplasty.  Considering this risk, the patient was referred to ophthalmology.


CFEH Facebook Case #17

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Pigmented Paravenous Chorioretinal Atrophy (PPCRA)

This is a bilateral, progressive condition that is characterised by pigmentary changes including RPE atrophy and pigment clumping around the blood vessels.  The OCT images show a reduction in the outer nuclear layer thickness, as well as disappearance of the Ise and interdigitation zone.  The hyper-reflective areas seen in the OCT images within the retina are due to RPE migration and increased reflectance seen in areas of the choroid is due to the drop out of RPE cells.

The exact aetiology of this condition is unknown, and speculation exists that it may be either genetic in nature, developmental or an immune response due to associated inflammatory conditions.

Sufferers often remain asymptomatic and the threat to vision is not high as the condition is usually stable.  Recommended management is to review the fundus appearance and visual fields annually to document progression.  An ERG can help with diagnosis and monitoring of this condition.  In this case, both an ERG and EOG were performed at CFEH with the ERG showing a normal scotopic and reduced photopic response.  The EOG showed an abnormal Arden ratio. Given the presence of significant field defect, Estermann field assessment may be required to assess suitability to drive.

This case and a series of other unusual eye conditions are presented in a video lecture “Case Studies on Unusual Eye Conditions”, available for viewing through Learning for Vision and approved for 2 therapeutic CPD points.  Go to www.learningforvision.com.au to purchase this and other lectures from our catalogue.


CFEH Facebook Case #16

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Although we find, as expected, a superior arcuate-type defect in the right eye which exhibits structure-function correlation with the inferior NRR (seen in stereo), RNFL and GCIPL loss, the left eye result is surprisingly clear. This is in spite of structural findings that are not too dissimilar between the eyes (for example, the RNFL symmetry index was at 84%; comparison of raw GCIPL thickness values between the eyes in fact shows the left eye to be slightly more depressed).

Poor structure-function relationship has been noted in a high number of cases of early glaucoma, whereby some patients show obvious signs of structural loss with absent visual field defects (i.e. pre-perimetric glaucoma). The visual field results of such patients have been found to be different to that of a completely healthy patient, however the results are all generally “green”, and show no failure of any typical visual field criteria for defect (e.g. MD, PSD, event analysis).


CFEH Facebook Case #15

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Familial Dominant Drusen

Retinal photography and the optomap image show diffuse drusen throughout the posterior pole, nasal to the disc, affecting the macula. Fundus autofluorescence shows a pattern of speckled hyper and hypo-autofluorescence. The OCT line scans show drusenoid elevations of the RPE.

This clinical picture suggests the diagnosis of familial dominant drusen, also known as Malattia leventinese, Doyne honeycomb retinal dystrophy or autosomal dominant radial drusen. It is unclear if these names represent one disorder or a spectrum of disorders. Malattia leventinese has been specifically defined as familial dominant drusen when the drusen are centred on the fovea in a radiating pattern.

Familial dominant drusen typically present in the 2nd-3rd decade of life with patients remaining asymptomatic until the 4th decade of life when metamorphopsia and/or decreased vision can begin. The condition is typified by bilateral, relatively symmetrical drusen that are prominent on the temporal side, but also seen outside the arcades and nasal to the optic nerve. The peripheral retina normally remains free of drusen. Diagnosis is confirmed if the patient reports family members with a similar pattern of drusen.

As the condition progresses drusen become confluent and pigment hyperplasia develops. Subsequent geographic atrophy and choroidal neovascularization can cause significant vision loss. Patients should self-monitor their vision at home with an amsler grid and undertake regular review, including OCT imaging. If choroidal neovascularization develops, referral to an ophthalmologist for review is required.

A 2012 study using a small sample size found treatment with Argon green laser may have a beneficial effect on patients with familial dominant drusen, however further assessment and follow up is still needed.


CFEH Facebook Case #14

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Intrachoroidal cavitation.

The fundus images show a pale, well circumscribed circular lesion inferior to the fovea with irregular pigmentation, a circumscribed area of hypo auto-fluorescence and an associated wedge defect. There was a corresponding superior paracentral field defect. Spectralis OCT through the lesion shows loss of the neurosensory retina and retinal pigment epithelium (RPE) overlying a posteriorly bowed sclera and cavities within the choroid.

Intra-choroidal cavitation has been described as a focal loss of the outer retina and RPE, with the remaining inner retina making direct contact with the sclera resulting in a “pseudo-fovea” appearance. Fluorescein angiography shows mild hyperfluorescence in the early phases and mild hyperfluorescence in late phases.

Early studies have found intra-choroidal cavitations to be more common in older subjects and those with longer axial lengths. They occur most frequently in the lower temporal quadrant and have a significant association with retinoschisis.  The sclera is bowed posteriorly in just over 50% of cases. Further studies are required to investigate these associations and long term sequelae.


CFEH Facebook Case #13

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Choroidal neovascularization (CNV) associated with chronic Central Serous Chorioretinopathy (CSCR)

Retinal photography and more notably the OCT Scanning Laser Ophthalmoscope image from the initial visit, showed scattered RPE disruptions in the left eye.  Baseline OCT line scans showed corresponding RPE and photoreceptor layer (ONL and EZ) disruption with migration of the RPE.  This clinical appearance, combined with the patient profile and subsequent autofluorescence image, is consistent with CSCR which falls into the spectrum of pachychoroid spectrum disease (for more information on this, click here.)

The current images showed exudates, subretinal fluid and intraretinal cystic spaces with a significant increase in superior macular thickness compared to baseline. Fluorescein angiography or possibly OCT Angiography would confirm the diagnosis, however these findings are consistent with CNV formation.

CSCR is the second most common cause of CNV following AMD.  Visual function loss can also occur if serous detachment of the photoreceptors persists for over 3 months.  As a result, while most cases of CSCR are self-limiting, chronic or recurrent cases warrant referral to a retinal ophthalmologist


CFEH Facebook Case #12

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Polypoidal choroidal vasculopathy.

Note that the round/yellow white lesion on the inferotemporal macula is a scar due to previous trauma to the right eye.

Polypoidal choroidal vasculopathy (PCV) is a chronic vascular abnormality of choroidal blood vessels with persistent serous leakage and recurrent bleeding. It is characterised by branching choroidal vessels ending in polyp-like aneurysmal bulges. These lesions usually appear in the macula and/or near the optic disc. There are often associated pigment epithelial detachments (PEDs).

PCV has a similar clinical appearance to neovascular AMD, however PCV is not associated with drusen and tends to progress at a slower rate than neovascular AMD. The usual age of onset is 50-65 years with the highest incidence seen in African Americans, followed by Asians and with a low incidence in Caucasians.

A definitive diagnosis of PCV requires indocyanine green angiography. Fundus autofluorescence imaging provides a non-invasive aid in identifying the sites of polypoidal lesions, which appear hypo-autofluorescent. OCT can help in detection of associated abnormalities such as PEDs. Multiple haemorrhagic PEDs were observed with OCT in this case.

Polypoidal lesions can resolve spontaneously and be replaced by subretinal fibrosis, RPE hyperplasia and/or atrophy. Lesions may also lead to choroidal neovascularisation.

Generally, a conservative approach to treatment is recommended unless there is persistent or progressive exudation that is macula-threatening. Treatment options include thermal laser photocoagulation (limited use in sub-foveal lesions), photodynamic therapy and anti VEFG agents to treat leaking aneurysms or polypoidal components within the vascular lesion. Most recently, a combination of PDT and anti-VEGF agents has been favoured due to a possible synergistic effect.


CFEH Facebook Case #11

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Torpedo maculopathy with corresponding Amsler grid distortion and visual field loss inferonasally.

Torpedo maculopathy is a congenital, solitary, chorioretinal lesion. There are no known associated congenital, systemic or ocular abnormalities. Distinctive features of torpedo maculopathy include a location temporal to the fovea, hypopigmentation and a horizontally oval, spindle-shaped lesion resembling a torpedo. This lesion typically has a pointed “head” directed toward the fovea and a round or frayed tail at the temporal margin.

Visual acuity is generally not affected as the lesion does not involve the central fovea. As in this case, visual fields testing with 10-2 threshold perimetry showed a corresponding inferonasal defect. Amsler grid can be used as a screening assessment however it should be noted this may be less sensitive to smaller lesions.

OCT imaging shows a neurosensory retinal detachment with a large cleft (posterior detachment of the RPE) and attenuation of the outer retinal layers including the inner segment ellipsoid line and RPE. The choroid is also more visible in the area of the lesion.

Fundus autofluorescence imaging of the lesion reveals a predominantly dense hypo-autofluorescence pattern with mottled areas of iso- or hyper-autofluorescence.

In terms of management for this case, although the lesion is congenital in nature and not known to progress, it is still important to establish stability and monitor progression particularly considering its proximity to the fovea. Therefore, routine review with photographic documentation for comparison and repeat imaging with OCT is recommended. It is also worthwhile for the patient to self-monitor their symptoms with the Amsler grid and patients should be advised to seek medical attention should any new or change in symptoms arise.


CFEH Facebook Case #10

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Suspicious iris naevus.
Iris naevi are relatively common pigmented lesions on the iris. Though generally innocuous, they may rarely convert to iris melanomas and therefore must be examined and monitored carefully.
Shields et al, 2013 devised an easy mnemonic to recall features associated with higher risk of conversion to malignancy:

A-Age (presentation<40 years)
B-Blood (hyphema)
C- Clock hour-inferior location
D-Diffuse configuration
E-Ectropian Uveae
F-Feathery margin
Other features that may represent a risk factor for malignancy include any iris distortion, anterior chamber cells or flare, dilated episcleral vessels, vascularisation or focal cataract.  It should also be noted that pigmented iris lesions greater than 3mm in diameter or greater than 1mm thickness increases the likelihood of a choroidal melanoma.
Gonioscopy is important in the assessment of elevation or expansion of iris naevi and to exclude invasion of the angle in more peripheral presentations.  In this case, gonioscopy shows ectropian uvea which is a condition where the iris pigmented epithelium curls around the margin of the pupil to reach the anterior surface of the pupil margin.  This results in distortion of the pupillary margin as noted on the anterior eye photo and is one of the risk factors for malignanacy identified by Sheilds et al above.

UBM can be used to differentiate a solid mass such as the one in this case from an iris cyst which is acoustically empty.  Iris naevi appear as lowly reflective surface plaques such as is seen here.  The thickness of the naevus can also be estimated, and in this case it is approximately 1mm thick.  Additionally, the UBM image shows a ‘Lion’s paw’ appearance, which is a posterior extension of the iris, delimited by the lens.  This appearance should raise suspicion of a possible nodular melanoma.

Traditional OCT can be used in these cases to demonstrate thickening and iris contour however iris penetrance is relatively poor and therefore is less helpful in differential diagnosis compared to UBM or anterior specific OCT.

This naevus exhibited the established risk factors of inferior clock hour location, ectropian uvea, iris distortion and a “lion’s paw” appearance on UBM.  Due to these suspicious features, this patient was referred to an ophthalmologist for an opinion on management.


CFEH Facebook Case #9

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Diagnosis: Small, congenitally tilted discs with parapapillary intrachoroidal cavitation (PICC) and a probable developing acquired juxta-papillary pit (indicated on the images below) with corresponding visual field loss.

PICCs are a juxta-papillary or peripapillary detachment, characterised on OCT by a hypo-reflective space in the choroid that can have normal retina and RPE overlying it.  They may be associated with glaucoma-like visual field changes and can appear as a yellowish round lesion inferior to the optic nerve.  Those that don’t have this appearance only show the cavity posterior to the myopic conus.

As well as congenital tilted discs, PICCs can affect those with pathological myopia and are most commonly found inferior to the optic disc.   The Beijing eye study (2013) found PICC was present in 16.9% of highly myopic eyes (refractive error greater than 6 dioptres or axial length greater than 26.5mm) and were typically associated with highly tilted optic discs and the presence of a posterior staphyloma.

71% of eyes with PICC have been found to have glaucomatous visual field defects.

In this case, it was difficult to determine whether there were co-existing glaucomatous changes.  As a result, the Centre’s ophthalmologist’s recommendation was to review the patient in 6 months to check for any evidence of change or progression.


CFEH Facebook Case #8

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Choroidal osteoma.

Choroidal osteomas are rare, benign tumours of the choroid, usually affecting the juxtapapillary and  macular areas.   They are more prevalent in females and are usually unilateral (80% of cases).  Age of onset can vary significantly, from a few months of age to late 60’s, but they are predominantly found in young adults.

Osteomas are typically irregular in shape with sharply defined or scalloped borders, are slightly elevated and usually have fine vascular networks on the surface of the tumor.  The colour of an osteoma is related to the level of RPE depigmentation which increases over time meaning that in early stages, they are orange-yellow in colour and in later stages more of a yellow-white colour.

Looking at the clinical picture for this patient, we can see a juxtapapillary yellow-orange lesion that involves the macula.  It is well demarcated with scalloped borders and there is associated RPE mottling at the macular.   Fundus autofluorescence shows a speckled hyper- and hypo- autofluorescence pattern along the inferonasal and superior margins of the lesion.

OCT images show an abrupt change in the choroidal architecture at the site of the lesion while overlying inner and outer retinal layers appear undisturbed.

In this case, OCT imaging showed there was no apparent subretinal fluid, RPE/photreceptor alterations or subretinal haemorrhage, explaining why visual acuity is still so good.  This patient was referred to a retinal specialist for further assessment and the diagnosis was confirmed by B-scan ultrasound which showed a strong acoustic shadow which is characteristic of choroidal osteomas.

Although a choroidal osteoma is benign, most show slow growth over time and vision can be affected through several mechanisms:

  1. Atrohpy of the RPE and choriocapillaris, producing a thin, yellow-grey area overlying the osteoma.
  2. Choroidal neovascularization (CNV), the prevalence of which has been found by various studies to be between 31 and 47%.  Tumors with overlying haemorrhage and an irregular surface are at highest risk of developing CNV.
  3. Subretinal fluid, haemorrhage and serous retinal detachment due to a damaged RPE are often associated with osteomas in the absence of CNV.  One long-term study found that 64% of eyes with sub-retinal fluid resolved spontaneously, but those that didn’t had poor visual outcomes.  The 10-year probability of losing visual acuity to the level of 6/60 was found to be around 56%.

CFEH Facebook Case #7

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Choroideraemia.
Choroideraemia is a progressive degeneration of the RPE and choriocapillaris.  It has an X-linked recessive inheritance pattern and is thus found mostly in males.
Early in the disease process, the mid-peripheral photoreceptors are affected causing mottled areas of pigmentation as seen in this patient.  Symptoms include problems with dark adaptation and night vision complaints.  Presentation is usually in the first or second decade of life.

Over time the areas of mottled pigmentation and atrophy progress producing a ring scotoma similar to retinitis pigmentosa (RP).  This condition is distinguished from RP however by the marked choroidal and RPE atrophy that develops, the fact that the blood vessels are unaffected and the absence of optic atrophy.  Although the onset of symptoms in this condition is in early childhood, most sufferers have a slow course of degeneration and progression with most maintaining good vision for 40-50 years.
Looking at the imaging results from this patient, widespread choroidal and RPE atrophy can be seen in the mid-peripheral and peripheral fundus.  There is associated pigment granularity in both eyes.  The right eye shows an area of more advanced RPE and choroidal atrophy, seen on the inferonasal fundus.  At this time there is a relative sparing of the central fundus in both eyes.

OCT line scans show widespread irregularity in the inner segment ellipsoid line, inner RPE and outer retinal layers in the top and bottom images.  The scan through the fovea however shows the central macula region to be relatively unaffected at this time.
To confirm the diagnosis, electrophysiology testing was conducted at CFEH.

Carriers of X-linked choroideraemia often show patches of subretinal mottled pigment and occasionally a lobular pattern of choriocapillaris and RPE loss, but are asymptomatic and have normal electrophysiology results.
For this reason, the patient’s mother was also examined and her Optomap images are below:

These images show reticular pigmentary changes in the peripheral fundus of both eyes which are hypo-autofluorescent as might be expected in a female carrier of choroideraemia.

Due to the sensitive nature of the diagnosis, the patient was not immediately given a diagnosis but was referred to an ophthalmologist for confirmation first and referral for appropriate counselling services.


CFEH Facebook Case #6

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Racemose Haemangioma.

Racemose haemangioma is a rare, typically unilateral, non-progressive retinal vascular tumor.

It is a malformation of the retinal vessels allowing direct connection between the arteries and veins. Clinically it presents as dilated and tortuous retinal vessels extending from the optic disc to the retinal periphery. The lesions, if very large, may occasionally result in intraretinal, vitreous or macular haemorrhage however fluorescein angiography usually shows stable, non-leaking lesions. Vaso-occlusive disease may also be associated with racemose haemangioma. Excluding these potential complications, there is typically no visual deterioration with this condition.

Racemose Haemangioma can be associated with Wyburn-Mason Syndrome. This syndrome is a vascular condition typified by arteriovenous malformations of the face, orbit, retina and central nervous system. A retinal racemose hemangioma is often associated with a lesion in the ipsilateral midbrain in this syndrome and there is typically an increase in early mortality due to the tendency of the AV malformations to bleed causing stroke, neurological deficits and death.

No treatment is available for retinal lesions, however intracranial lesions may be managed with surgery, radiotherapy or embolization. Once Wyburn-Mason Syndrome has been excluded, routine review is recommended.


CFEH Facebook Case #5

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Pattern dystrophy.

Funduscopy and retinal photography show both hyper and hypo pigmentary changes at both maculae. Fundus autofluorescence shows a pattern of hyper fluorescence at the macula. The OCT images show signs of RPE pigment migration (most notable in the middle image shown) and atrophy of the outer retinal layers, including the photoreceptors (most notable in the middle and lower images shown). The middle image also shows a hyperreflective sub-retinal lesion that is typical of a pattern dystrophy.

Pattern dystrophy is characterised by the development of “patterns” of yellow, orange or grey pigment at the macula. It is typically a bilateral, autosomal dominant condition associated with mutations in the RDS/peripherin gene and has an age of onset ranging from 30-50 years. Presenting symptoms typically include a mild loss of best corrected visual acuity and metamorphopsia, both of which have been noted in this case, however some cases may remain asymptomatic.

There are 5 main “pattern” presentations possible and these are categorised according to the distribution of the pigment deposits:

  • Adult-onset foveomacular vitelliform dystrophy – is characterised by yellow, round, bilateral subfoveal lesions that typically have a central pigmented spot and may be slightly raised.
  • Butterfly dystrophy (as in this case) – bilateral butterfly-shaped pigmentation at the level of the RPE. Usually there is an area of total RPE and photoreceptor layer loss.
  • Reticular dystrophy – appears as a reticular network of pigmented lines criss-crossing over the posterior pole with pigmented “knots” at the intersection of these lines.
  • Fundus pulverulentus – the rarest presentation, characterised by a coarse pigment mottling of the RPE in the macular area. This condition can be difficult to differentiate from other maculopathies.
  • Multifocal dystrophy – characterised by irregular yellow-white flecks scattered throughout the fundus, similar to those seen in fundus flavimaculatus. Associated macular lesions can range from yellow/grey deposits through to areas of severe chorioretinal atrophy. Multifocal dystrophy does not have the “dark choroid” seen in fundus flavimaculatus on fluorescein angiography.

The prognosis depends on which type of Pattern dystrophy is present and the age of onset of symptoms. This patient has butterfly dystrophy and can be expected to maintain relatively normal acuity for much of his life, however atrophic lesions can develop with age, which would adversely
affect this acuity. To download the CFEH Chair-side reference guides to help with your differential diagnosis of this and other macular condtions, please go to: http://www.centreforeyehealth.com.au/chairside-referrences/


CFEH Facebook Case #4

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Fuchs uveitis syndrome (FUS) is a chronic, mild non-gramulomatous anterior uveitis.  It has been estimated that 90% of cases are unilateral and patients can be either symptomatic or asymptomatic.
There is a wide variety of possible presentations, however the classic signs are as follows:

  1. Hypochromia of the affected eye (iris heterochromia) – in this case the affected eye is the left eye which has notably less pigment than the right eye
  2. Fine keratic precipitates on the corneal endothelium – typically stellate or dendritic in appearance.  These KP’s can be seen in the anterior photo given, and from the OCT we can see confirm that they are located on the endothelium.   It should be noted that while mutton-fat KP’s may occasionally appear in FUS, they are more typically found in granulomatous uveitis or Posner-Schlossman Syndrome.
  3. Mild or low-grade iridocyclitis – this patient shows no signs of active inflammation at this time and reports no inflammatory symptoms in the past.  The mild nature of the iridocyclitis can cause a patient to be asymptomatic as in this case.
  4. Iris atrophy – develops over time and is not yet apparent in this case.

Other characteristic features can include iris nodules (Koeppe nodules on the pupillary margin and Busacca nodules on the iris surface); prominent iris blood vessels (due to gradual iris atrophy); iris crystals (Russell bodies) and mild vitritis.  IOP of the affected eye can also be elevated during an episode of iritis.
Possible complications include:

  1. Sub-capsular cataract – caused by severe anterior inflammation (anterior sub-capsular opacity) or vitritis (cortical and posterior sub-capsular opacities)
  2. IOP elevation and secondary open angle glaucoma (SOAG) due to damaged aqueous outflow caused by recurrent episodes of uveitis.

Treatment of SOAG usually involves aqueous suppressants (β-blockers, α-agonists and carbonic anhydrase inhibitors).  The use of prostaglandin analogs is controversial as it is thought they may exacerbate the inflammatory response or cause recurrent uveitis, and laser treatment may be contra-indicated in FUS.

For more detailed information on this condition and its atypical variants, please refer to the article published by CFEH:

Phu J, Trinh WH, Chau-Vo JS, Nivison-Smith L, Kalloniatis M. Atypical Features of Fuchs Uveitis Syndrome Optometry and Vision Science (2015) Vol 92 no 11 pp 394-403


CFEH Facebook Case #3

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X-linked Juvenile Retinoschisis.

Visual acuity can range from 6/6 to light perception. VA typically reduces during first 2 decades with a then slow decline until the 5th and 6th decades. Foveal changes are seen in all cases and peripheral schisis in approximately half. Funduscopically, the macula often shows folds radiating out from the foveolar.

The macula changes associated with x-linked juvenile retinoschisis are best viewed with OCT. This
patient’s images show characteristic cystic spaces within the retina in the inner nuclear layer and the
outer nuclear/outer plexiform layer which is typical of this condition. There is a marked elevation of the retina adjacent to the fovea extending to the inferior retina known as a vitreous veil. These can lead to retinal detachment and vitreous haemorrhage.

A defect in the XLRS1 gene is responsible for this condition. This gene encodes an amino acid protein called retinoschisin which mediates the interactions and adhesions between the photoreceptor, bipolar and Muller cells.

Review by a retinal specialist is advised with electrophysiology testing sometimes useful in confirmation of the diagnosis. Prophylactic treatment of the retinoschisis is not generally advised as there is a high risk of retinal detachment, however genetic counselling and low vision aids / management is recommended.


CFEH Facebook Case #2

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The lesion is a Congenital Simple Hamartoma of the RPE (CSRPEH).
This is a benign, non-progressive, darkly-pigmented, nodular lesion with well-defined margins.  Associated complications can include retinal traction, exudation, dilated feeder vessels and pigmented vitreous cells although none of these appear in this case.
Fundus autofluorescence shows characteristically uniform hypofluorescence of the CSRPEH. On OCT the lesion is elevated, clearly demarcated and appears highly reflective with complete posterior shadowing.
As these lesions are typically non-progressive, the prognosis is generally good.
The following flow-chart from Ly A, Nivison-Smith L, Hennessy M, Kalloniatis M. (2015) Pigmented lesions of the retinal pigment epithelium. Optom Vis Sci. 92(8):844-57 is a useful reference in the differential diagnosis of pigmented RPE lesions.


CFEH Facebook Case #1

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Sickle-Cell Retinopathy
The area scanned in the right eye and the area marked 2 in the left show peripheral neovascularization with fibrosis. There is a sunburst lesion in the left eye (lesion marked 1).
The vitreous opacities seen inferiorly on the right Optomap images are consistent with old vitreous
haemorrhages.

This patient was subsequently referred to a retinal specialist for management.

Sickle cell retinopathy results from a mutant gene that codes for the amino acids contained in haemoglobin. This causes the red blood cells to deform into a “sickle” shape when oxygen pressure is low. Sickle cell retinopathy is most prevalent in the African American population.

Sunburst lesions are localized areas of retinal pigment hypertrophy, hyperplasia and pigment migration as seen in the OCT. The lesions often appear speculated and are typically found in the peripheral retina in a perivascular location. The “sunburst” lesions usually form secondary to reabsorbed sub-retinal haemorrhages and appear on fundus autofluorescence as an area of  hypo-autofluorescence with a hyper-autofluorescent border. They are characteristic of sickle-cell retinopathy.

Decreased visual acuity occurs due to the occlusion of parafoveal capillaries and arterioles, as well as spontaneous occlusion of the central retinal artery in some patients.

This patient also has a second characteristic feature of sickle cell retinopathy – pre-retinal “sea fan” neovascularization. This typically occurs in sickle-cell patients at the posterior border of an area of retinal non-perfusion, and can lead to vitreous haemorrhage and eventually tractional retinal detachment.

Other possible clinical findings typical of sickle cell retinopathy include the segmentation of blood in the blood vessels of the conjunctiva or the small surface vessels of the optic disc.