HPI: A 47-year old Caucasian female is referred to Illinois Retina Associates for evaluation of floaters. She reports worsening floaters in both eyes for three months, as well as occasional flashing lights in both eyes. She denies any eye pain.
POH/PMH: She has no prior history of eye problems. The patient has a history of hypothyroidism for which she takes Synthroid.
Exam: the patient’s visual acuity is 20/25 and 20/20 in the right and left eyes, respectively. Intraocular pressures are 15 and 16. Pupil, motility, and confrontational field examination were within normal limits. Slit lamp examination showed a normal ocular surface, anterior chamber, and lens bilaterally with no sign of anterior chamber cell or flare.
Posterior segment examination demonstrated trace cell in the anterior vitreous and vitreous syneresis bilaterally. Optic discs were normal in appearance. The retinal vasculature in the right eye appeared normal, however, in the left eye there was mild venous sheathing and tortuosity. On careful examination there were also small, round, yellow lesions deep to the peripheral retina in both eyes.
Fluorescein angiogram demonstrated late vascular leakage around larger vessels diffusely in both eyes, suggestive of a retinal vasculitis.
Humphrey visual field testing (24-2) revealed superior arcuate defects in both eyes.
Additionally, Iridocyanine Green was performed which showed hypofluorescence of the scattered peripheral lesions in both eyes in early and late frames.
The following laboratory workup was ordered:
ESR, CBC, ACE, Lysozyme, Quantiferon, ANCA, Rheumatoid Factor, Lyme, FTA-ABS, and HLA A29, all of which were normal except the HLA A29 was positive. Chest x-ray was also normal.
On further testing, ERG showed mildly abnormal scotopic B wave amplitudes of 187 and 143, and 30Hz flicker latency was 30.5 and 32 in the right and left eyes, respectively.
A diagnosis of Birdshot Chorioretinopathy was made based on the characteristic fundus appearance with scattered yellow “birdshot spots” throughout the mid-peripheral retina, along with positive HLA A29 testing, presence of vitritis, and ICG showing typical hypofluorescence of the above mentioned lesions. A reasonable suspicion for masquerade syndrome must be maintained until response to treatment is observed, since malignancy cannot be initially ruled out without a vitreous biopsy.
Birdshot Chorioretinopathy is one of the inflammatory chorioretinopathies termed, “White Dot Syndromes,” which are loosely related entities grouped together based on similarities in clinical appearance. They generally present with some degree of multiple yellow-white lesions affecting various layers of the choroid, RPE, and/or retina.
Specifically, birdshot chorioretinopathy presents uniformly with vitritis, and anterior chamber inflammation is usually absent or minimal. There are yellowish lesions at the level of the deep retina scattered throughout the mid-peripheral retina, usually sparing the macula and posterior pole. Fluorescein angiography most often shows varying degrees of vasculitis, but can also show leakage suggestive with cystoid macular edema. Iridocyanine Green angiography will reveal persistent hypofluorescence of the yellow fundus lesions. ERG testing is also useful for both initial diagnosis and monitoring the long-term progression of the disease. Greater than 90% of patients with birdshot are HLA-A29 positive on blood testing, so a positive HLA typing is very supportive of the diagnosis, however it is not necessary for the diagnosis to be made.
Birdshot chorioretinopathy affects women more than men, usually in their fourth to sixth decade of life. Presenting symptoms include nyctalopia, floaters, photopsias, scotomas, and decreased vision. Visual acuity is relatively preserved, however patients often complain of symptoms that seem out of proportion to measured acuity. Most patients have a recurrent course involving multiple exacerbations and remissions. When loss of retinal function occurs it is diffuse, and it is attributed to chronic hypoperfusion and changes in the RPE and choroid. Central vision loss can occur from cystoid macular edema and optic nerve atrophy.
Treatment for birdshot chorioretinopathy typically involves an initial course of topical and oral corticosteroids. Localized therapies include intravitreal steroid implants for sustained control of the disease and sub-Tenon’s steroid injections for macular edema. Eventually, it is desirable for patients to transition to long-term treatment on steroid-sparing agents, such as methotrexate, or biologics, such as infliximab.
Artornsombudh, P., Gevorgyan, O., Payal, A., Siddique, S. S., & Foster, C. S. (2013). Infliximab treatment of patients with birdshot retinochoroidopathy. Ophthalmology, 120(3), 588-592.
Rothova, A., Berendschot, T. T., Probst, K., van Kooij, B., & Baarsma, G. S. (2004). Birdshot chorioretinopathy: long-term manifestations and visual prognosis. Ophthalmology, 111(5), 954-959.
Crawford, C. M., & Igboeli, O. (2013). A review of the inflammatory chorioretinopathies: the white dot syndromes. ISRN inflammation, 2013.
Polypoidal Choroidal Vasculopathy – October 2017
HPI: A 52 year old man referred to Illinois Retina Associates for blurred vision in the right eye. The blur has been worsening in the central vision over the preceding 2 months. There were no symptoms in the other eye.
Past medical history: The patient was healthy and not on any medications.
Ocular Examination: Vision was 20/200 in the right eye and 20/25 in the left ye. Pressures were normal. There were mild cataracts in both eyes. The posterior exam was notable for subretinal hemorrhage in inferiorly in the right eye (figure 1) and a solitary CHRPE in the left eye.
OCT: The right eye showed hyper-reflective subretinal material inferiorly. The left eye showed pigment epithelial detachments.
FA and ICG Right eye showed polypoidal changes in the ICG without leakage on the FA. The left eye was unremarkable.
OCT angiography right eye also shows the thickened vessel in the choroid.
Given the thickened vessel in the choroid characteristic of a polyp and the lack of findings consistent with choroidal neovascularization on FA, the diagnosis of Polypoidal Choroidal Vasculopathy was made.
The patient was treated with intravitreal bevacizumab and his vision improved to 20/50 from 20/200 in the right eye.
Polypoidal choroidal vasculopathy is an exudative macular disease that shares some characteristics with age-related macular degeneration. Both are causes of fluid and bleeding in the macula that increase in frequency with increasing age. While age-related macular degeneration is most common in Caucasians, polypoidal choroidal vasculoptahy is more commonly seen in those of Asian, Hispanic or African descent. The underlying cause is an abnormality in the choroidal circulation that results in a dilated choroidal vessel, known as a polyp. Because these vessels are primarily seen only with ICG, this condition is likely frequently underdiagnosed.
Treatment is similar to that of exudative age-related macular degeneration. These patients often have an improvement in fluid and vision with intravitreal anti-VEGF (Vascular endothelial growth factor) agents.
Ryan Retina, Chapter 71, Polypoidal Choroidal Vasculopathy, Xiaoxin Li OIntravitreal injection of aflibercept in patients with polypoidal choroidal. Maruyama-Inoue M, Sato S, Yamane S, and KAdonosono K. Retina 2017.
Susac’s Syndrome – September 2017
HPI: A 37-year-old Caucasian female presents, urgently referred from a community eye care provider, complaining of progressive peripheral visual loss as well as fluctuating numbness and tingling, spreading to all four extremities. Upon further questioning, she also reports intermittently diminished hearing.
Past medical history is remarkable only for long-standing hypothryoidism, treated with supplementation. Past ocular history is non-contributory.
Examination: Uncorrected visual acuity was 20/25 and 20/20 in the right and left eyes, respectively. Intraocular pressure was normal in both. Ocular motility, confrontational field, and pupillary examination were unremarkable, showing no relative afferent pupillary defect. Slit lamp examination of the anterior chamber was also normal, including no anterior chamber inflammation, with a clear cornea and lens in each eye.
On fundus examination, the patient was noted to have healthy appearing nerves in both eyes. Peripheral retinal examination of the right eye was notable for faint whitening in the distribution of a peripheral branch of the superonasal arcade arteriole. Similarly, examination of the left eye demonstrated whitening and numerous cotton-wool spots along the proximal inferotemporal arcade vessels and within the inferotemporal macula. These findings are suggestive of branch retinal artery occlusions of both eyes (Figure 1 & 2)
Differential Diagnosis for occlusive retinal vasculitis
Hypercoagulable states (i.e. antiphospholipid antibodies, prothrombin mutation, antithrombin deficiency, protein C and S deficiencies)
Systemic lupus erythematosus
Granulomatosis with polyangitis
Optical coherence tomography of the involved areas showed inner retinal thickening with significant nerve fiber layer swelling, also consistent with retinal arterial ischemia (Figure 3).
Fluorescein angiography of both eyes demonstrated focal late staining of the corresponding arterioles with either significantly delayed or absent filling distal to the lesions in the superonasal and inferotemproral arcade vessels in the right and left eyes, respectively (Figures 4 & 5).
MRI with and without contrast of the brain demonstrated multiple hyperintense foci within the corpus callosum on FLAIR imaging, as well as generalized leptomeningeal enhancement and scattered punctate foci of cortical diffusion restriction (Figure 6).
Laboratory testing, including infectious, general inflammatory and vasculitis-specific workup were subsequently negative.
– A young, otherwise healthy female presenting with bilateral acute occlusive retinal arteritis in conjunction with neurological symptoms, particularly hearing loss is strongly suggestive of Susac’s Syndrome. MRI findings of multiple hyperintense foci within the body of the corpus callosum are virtually pathognomonic for this condition. This, in conjunction with the negative serum testing for other infectious and inflammatory etiologies, provided sufficient basis for the diagnosis of Susac’s Syndrome.
The patient was last seen 3 months after initial presentation with stable visual symptoms, intact central vision and improving neurological symptoms. Hearing remains impaired in one ear. Her treatment consists of a slow oral steroid taper, intravenous IgG twice monthly, and oral Cellcept.
Susac’s Syndrome, also known as retinocochleocerebral vasculopathy, classically consists of a triad of encephalopathy, branch retinal artery occlusions, and hearing loss. It is an autoimmune endotheliopathy, suggesting that it is caused by autoantibodies directed against the endothelial cells of the arterioles. One or more of the “triad” symptoms may not be present or may fail to be recognized on initial presentation. Often, the encephalopathic component is accompanied or preceeded by migraine headaches. Typically, this condition is seen in young women, between 20 and 40 years of age, however it can be observed in other subsets of the population.
As mentioned above, pathognomonic of Susac’s are findings of hyperintense foci within the corpus callosum on FLAIR MRI imaging, best seen in sagittal cuts, which represent small acute infarcts. Because of their appearance they are often referred to as “snowballs” or a “string of pearls”. Later, these fade to become hypointense, particularly on T1 imaging, and they are then referred to as central callosal “holes”.
It is essential that Susac’s syndrome be diagnosed promptly, since if treatment is delayed it can ultimately lead to permanent disability or death. Once diagnosed, treatment consists of high-dose corticosteroids, coupled with an immunosuppressant such as Cellcept, Intravenous IgG is also helpful to gain control of the disease.
Magro, c.M., Poe, J.C., Lubow, M. & Susac, J.O. (2011). Susac Syndrome: An Organ-Specific Autoimmune Endotheliopaty Syndrome Associated With Anti-Endothelial Cell Antibodies. American Journal of clinical pathology, 136(6), 903-912.
Rennebohm, R., Susa, J.O., Egan, R.A., & Daroff, R.B. (2010). Susac’s syndrome – update. Journal of the neurological sciences299(1), 86-91
Rennebohm, R.M., & Susac, J.O. (2007). Treatment of Susac’s Syndrome. Journal of the neurological sciences 257(1), 215-220
HPI: A 28 year old man was referred to Illinois Retina Associates for blurred vision in his right and left eyes. The right eye was more severely affected.
Ocular Examination: Vision was 20/20 in both eyes without correction. Intraocular pressures were normal in both eyes. Pupils were equal round and reactive. The eyelids and anterior segments were unremarkable. The right eeye was notable for an optic nerve pit and the right periphery showed 2 inferior areas of abnormal retinal appearance (Figure 1). the left eye had an unremarkable posterior segment exam (Figure 2).
OCT through the lesion inferior to the optic disc showed an absence of normal retinal tissue associated with an outpouching of sclera (Figure 3). Additional cuts through the macula confirmed an absence of fluid in the macula.
Visual fields showed a superior scotoma corresponding to the inferior lesion in the right eye (Figure 4) and the left eye showed a full field (Figure 5).
– The OCT illustrating the absence of retina over the area of abnormal retinal appearance and the visual field showing the superior scotoma strongly suggest a diagnosis of retinochoroidal coloboma. Additionally, the area of abnormal appearance in the optic nerve is consistent with an optic nerve pit. These entities are known to coexist. Given the patient did not have any other systemic pathology, any of the syndromic associations with coloboma, were excluded.
Optic nerve pits are excavations of the optic nerve head present from birth. They are believed to originate from incomplete closure of the superior and inferior embryonic fissures. Although benign by natures, the most frequent complication associated with optic nerve pits are serous retinal detachments which are thought to be due to liquefied vitreous gaining access to the subretinal space through the optic nerve pit. Such pits occur in about 1 in 10,000 eyes and 10% of optic nerve pits are bilateral. Optic nerve pits are associated with colobomas of the retina and iris.
Retinochoroidal colobomas are caused by failure of the choroidal fissure to close. Depending on their location, they may be benign or associated with amblyopia, refractive error or visual field defects. They may also be complicated by choroidal neovascularization and retinal detachment. They may be unilateral or bilateral and may be associated with other developmental defects as part of a syndrome.
Combined optic nerve pits and retinochoroidal coloboma are a previously reported entity. They are believed to coexist because they originate from the same failure of fusion. As long as they are in the same eye, they are not known to carry increased risk of a systemic syndrome.
Retina, 5th edition, Ryan et al.2013, Chapter 93, 1583-1588
Aronowitz P, Judge J. Coloboma of the Optic Disc and Retina. J Gen Intern Med. 2017
Torpedo Maculopathy – July 2017
HPI: Patient is a 27 year old woman who was sent for asymptomatic abnormal retina appearance.
PMH:Past medical history was negative. Past ocular history was significant for mild myopia in both eyes. Specifically, she denied any history of trauma to the eyes or any condition needing eye drops.
Exam: Visual acuity was 20/20 in both eyes. IOP and pupils were normal in both eyes. The only abnormality is seen in the right macula as shown in the photographs below.
Hyperpigmentation due to past injury, inflammation or infection
Central Serous Chorioretinopathy
Torpedo maculopathy describes a congenital abnormal appearance in the macula of one eye. It is an void hypopigmented area in the temporal macula along the horizontal raphae. These lesions are non-progressive and asymptomatic. They are believed to be related to the fetal bulge of the eye presented in the 4th to 6th months of gestation. They are not associated with other developmental anomalies of the eye or the rest of the body.
The lesions associated with torpedo maculopathy can be associated with OCT changes and hyperautoflourescense but do not require an extensive workup for diagnosis. These patients do not need monitoring beyond that required by dictated by their age, systemic health and other eye conditions.
Golchet PR, Jampol LM, Mathura JR, et al Torpedo Maculopathy British Journal of Ophthalmology 2010;94:302-306
Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo Maculopathy at the Site of the Fetal “Bulge”. Arch Ophthalmol. 2010;128(4):499-501.
IRVAN Syndrome – June 2017
A 65 year-old female was referred to Illinois Retina Associates for evaluation of decreased vision and macular changes in both eyes. She had a past ocular history of laser treatment in both eyes but had not seen a retinal specialist in a few years.
She was known for coronary artery disease, heart failure and atrial fibrillation and taking the following medication: hydralazine, coumadin, carvedilol, furosemide, pravastatin, aspirin. She was not diabetic.
Her uncorrected visual acuity was 20/400 in the right eye, and 20/60 in the left eye, not improved with pinhole. Anterior segment examination was unremarkable except for mild nuclear sclerosis in both eyes. On posterior segment examination of both eyes, there were scattered laser scars in both eyes, multiple sclerotic vessels, occasional retinal hemorrhages, and scattered fibrotic vascular dilations consistent with macroaneurysms (Figures 1 & 2).
Vision was 20/25 and 20/20, right and left eyes respectively. Intraocular pressures, pupils, nerves and anterior segments were unremarkable. Fundus examination of the right eye revealed subretinal fluid under fovea and inferior macula with no associated hemorrhage or exudates (Figure 1). The left eye was unremarkable (Figure 2).
Sickle Cell Retinopathy
Idiopathic multiple bilateral macroaneurysms
Macroaneurysms secondary to poorly controlled hypertension
Idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) syndrome
On fluorescein angiography of both eyes, there were extensive areas of peripheral ischemia, focal retinal vasculitis, macroaneurysms, telangiectatic vessels, and evidence of prior laser (Figures 3 & 4).
Optical coherence tomography of the right eye showed subfoveal outer retinal atrophy and scarring (Figure 5), while the left eye had mild retinal striae (Figure 6).
The examination was consistent with “idiopathic retinal vasculitis-aneurysms-neuroretinitis” (IRVAN) syndrome.
The patient was followed closely for the development of vision-threatening complications. Given the absence of macular edema and neovascularisation, no treatment was needed at this time.
The patient was followed closely for the development of vision-threatening complications. Given the absence of macular edema and neovascularisation, no treatment was needed at this time.
A number of treatments have been described in the literature, including laser photocoagulation, cryotherapy, corticosteroids, anti-VEGF injection, immunosuppressive medication, and surgical intervention (vitrectomy), with mixed results. (3-5)
The visual outcomes are variable, depending on the aggressiveness of the clinical course and timely intervention. Close follow-up is essential to prevent visual loss. (1-5)
Samuel MA, Equi RA, Chang TS, et al. Idiopathic retinitis, vasculitis, aneurysms, and neuroretinitis (IRVAN): new observations and a proposed staging system. Ophthalmology. 2007;114:1526–1529Karagiannis D, Soumplis V, Georgalas I,
Pichi F, Ciardella AP. Imaging in the Diagnosis and Management of Idiopathic Retinal Vasculitis, Aneurysms, and Neuroretinitis (IRVAN). Int Ophthalmol Clin. 2012 Fall;52(4):275-82.
Kandarakis A. Ranibizumab for idiopathic retinal vasculitis, aneurysms, and neuroretinitis: favorable results. Eur J Ophthalmol 2010; 20(4): 792 – 794
Cheema RA, Al-Askar E, Cheema HR. Infliximab Therapy for Idiopathic Retinal Vasculitis, Aneurysm, and Neuroretinitis Syndrome. J Ocul Pharmacol Ther. 2011 Aug;27(4):407-10
Basha M, Brown GC, Palombaro G, Shields CL, Shields JA.Management of IRVAN syndrome with observation.Ophthalmic Surg Lasers Imaging Retina. 2014 May 1;45 Online:e18-22.
Macular Telangiectasia – April 2017
A 54 year-old female was referred to Illinois Retina Associates for decreased vision and macular changes in both eyes. Her visual symptoms had been present for 5 years, but progressively worsening. She had no past ocular history.
She was known for back pain and elbow epicondylitis and taking the following medication: gabapentin, naproxen, alprazolam, fluoxetine.
Her uncorrected visual acuity was 20/50 in the right eye, and 20/100 in the left eye, not improved with pinhold. Anterior segment examination showed nuclear sclerosis in both eyes. On posterior segment examination, there was a gray appearance and pigment mottling in the temporal part of the macula in both eyes and the loss of foveal reflex (Figures 1 & 2).
Focal Laser Scarring
Toxic Maculopathy (Plaquenil)
On fundus autofluorescence imaging, there was increased autofluorescence in the foveal region of each macula and focal hypoautofluorescence corresponding to the pigment mottling (Figures 3 & 4). Fluroescein angiography showed hyperfluorescence due to leaking telangiectatic vessels around the fovea, more on the temporal side (Figures 5 & 6). Optical coherence tomographyt showed small foveal cystoid cavities, disorganized retinal layers on the temporal side, and pigment migration into the retina (Figures 7 & 8).
Macular telagiectasis, also called idiopathic juxtafoveal telangiectasis, is typically subdivided into 3 subtypes, depending on their presentation. Type 1 is unilateral and is associated with parafoveal capillary dilation, microaneurysms and lipid exudation. Type 2 is the most common, is bilateral, and does not present with lipid. Type 3 is very rare and is characterized by parafovea ischemia.
Macular telangiectasis type 2 most commonly presents in middle age, has no gender nor racial predilection and is not inherited. Commmon complaints include blurry vision, distortion and scotomas.
Imaging studies, including autofluorescence, fluorescein angiography and OCT can be helpful in making the diagnosis early, when findings may be subtle. Some early findings include graying of the retina, telangiectasias, crystalline deposits, right-angle venules and cystoid spaces.
Patients are at risk of developing subretinal neovascularization with a subsequent rapid decrease in vision. There is no proven treatment for the nonproliferative stage, but once neovascularization is present, it may respond well to anti-VEGF injections.
The disease tends to have a slowly progressive course in the majority of patients, with visual loss over time.
Gass JD, Blodi BA. Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study. Ophthalmology 1993;100(10):1536-46
Nowilaty SR, Al-Shamsi HN, Al-Khars W. Idiopathic juxtafoveolar retinal telangiectasis: a current review Middle East Afr J Ophthalmol 2010;17(3):224-41
Roller AB, Folk JC, Patel NM, Boldt HC, Russel SR, Abramoff MD, Mahajan VB Intravitreal bevacizumab for treatment of proliferative and nonproliferative type 2 idiopathic macular telangiectasia Retina 2011;31(9):1848-55
Watzke RC, Klein ML, Folk JC, Farmer SG, Munsen RS, Champfer RJ, Sletten KR. Long-term juxtafoveal retinal telangiectasia Retina 2005;25(6):727-35
Wong WT, Forooghian F, Majumdar Z, Bonner RF, Cunningham D, Chew EY Fundus autofluorescence in type 2 idiopathic macular telangiectasia: correlation with optical coherence tomography and microperimetry. Am J Ophthalmol 2009;148(4):573-83
Yannuzi LA, Bardal AM, Freund KB, Chen KJ, Eandi CM, Blodi B. Idiopathic macular telangiectasia. Arch Ophthalmol 2006;124(4)450-60
Giant Retinal Tear-March 2017
A 62 year old man presented to clinic with 4 days of a veil progressing over the inferior portion of his visual field. There was no associated pain or flashing lights.
Past Ocular History
History of uncomplicated cataract surgery in the left eye with posterior chamber lens in place. Cataract right eye.
VA was 20/20 right eye and count fingers at 4 feet left eye. IOP was 22 and 16mmHg, respectively. The anterior exam was unremarkable and showed mild nuclear sclerotic cataract in the right eye and a posterior chamber lens in the left eye.
The posterior exam was notable for the findings below in the left eye:
Giant Retinal Tear
Broken capsule in cataract surgery
Based on appearance and history of the diagnosis of giant retinal tear was made. The patient was taken to the OR for scleral buckle, vitrectomy, endolaser and gas which resulted in successful retinal reattachment.
Giant retinal tears are defined as a retinal tear affecting greater than 90 degrees of the retina. Although associated with connective tissue disorders such as Sticker syndrom, Ehlers-Danlos syndrome and Marfan Syndrome, and risk factors such as high myopia, over half of cases are idiopathic. Males are more often affected than females (70% vs 30%). Giant tears provide a surgical challenge, as the retina may be prone to folding and slipping. There is a substantial risk of proliferative vitreoretinopathy for these patients compared to a typical retinal detachment. There is also some debate among retinal specialists about the use of scleral buckles for giant retinal tear related detachments.
Retina, 5th edition, Ryan et al.2013, Chapter 109, 1844-1851
Wyburn Mason – February 2017
A 21 year-old was referred to Illinois Retina Associates for abnormal vessels in her right eye. She had been experiencing flashing lights in her right eye for a few days and recently had a severe migraine episode which led to a visit to the emergency room, where she had a normal brain CT scan.
Her uncorrected visual acuity was 20/80 in the right eye, and 20/50 in the left eye, improved to 20/40 OU with pinhole. Anterior segment examination was unremarkable. On posterior segment examination, there were dilated and tortuous vessels in the superotemporal quadrant OD. The left eye posterior examination was unremarkable.
Retinal Capillary Heamngioblastoma (i.e. retinal angioma of von Hipple-Lindau)
Retinal Vasoproliferative Tumor (primary or secondary)
Fundus photography (Figures 1 & 2) and fluorescein angiogram (Figure 3) confirmed the presence of dilated and tortuous vessels in the superotemporal quadrant OD, with no evidence of leakage. Optical coherence tomography showed normal macula OD (Figure 4).
Given the typical appearance on clinical examination and imaging studies, a diagnosis of arterio-venous malformation on the Wyburn-Mason syndrome spectrum was made.
Given the possibility of an association of retinal arterio-venous malformations with other vascular anomalies of the brain and facial bones, MRI and MRA studies of the brain were recommended.
Wyburn-Mason is a congenital, non-hereditary condition that may go unnoticed for a long time if the malformations are minor and do not cause symptoms.
Patients with Wyburn-Mason syndrome can present a combination of systemic findings, the most common being: Arteriovenous malformations of the
Retina; typically unilateral but of varying degrees of severity
brain; depending on location and severity, this can lead to various neurological symptoms
facial bones (maxilla and mandible), which could result in severe bleeding during dental procedures
Nevi: subtle and uncommon
Visual complications are are but can occur if the malformation is leaking and resulting in macular edema.
Scuta GL, Cantor LB, Cioffi GA. Basic and Clinical Science Course. Singapore: American Academy of Ophthalmology, 2013:85-87
Ruggieri M., Konez O., Rocco Concenzo. Wyburn-Mason Syndrome. In: Ruggieri M. Pascual-Castroviejo I., Di Rocco C., ed. Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes New York, NY: Springer Vienna; 2008:345-352.
Bhojwani D, Vachhrajani M, Vasavada A. Wyburn Mason Syndrome: A Rare Phacomatosis Ophthalmology. 2016 Aug;123(8):1787.
Pattern Dystrophy – January 2017
A 53 year old female was referred to Illinois retina Associates for abnormal fundus apearance in both eyes. She does rely on glasses for bet vision, but is happy with vision with glasses or contacts.
The patient has a history of breast cancer treated with surgical removal. She has been in remission for over 5 years. She has seasonal allergies for which she occasionally takes antihistamines.
VA: 20/20, 20/80 PH 20/25
IOP: 20,19 mmHg
Pupils were equal and reactive without APD. The anterior segments were notable only for slight cataract in both eyes.
This patient has a pattern consistent with a bull’s eye maculopathy.
The differential for this consists of:
Chloroquine or hydroxycholoquine (plaquenil) toxicity
Age-related macular degeneration
Rod and cone dystrophy
Neronal ceroid lipofuscinosis
In this patient with excellent vision, no history of toxic exposures this patient was diagnosed as having a pattern distrophy. She has been stable without intervention for 2 years of follow-up.
Toxic bull’s eye retinopathy secondary to chloroquine toxicity causes the classic fundus appearance, and loss of the outer retina in the parafoveal area leading to a paracentral scotoma. Risk for chloroquine toxicity is associated with dose, with an increased risk at doses above 6.5mg/kg/day for hydroxychloroquine and 3mg/kg/day for chloroquine.The risk of toxicity is <1% after 5 years of therapy, 2% at 10 years and 20% at 20 years. Screening is recommended before starting therapy with full dilated exam and OCT. Full exam with OCT is then recommended at 5 years and each year thereafter. It is important that any toxicity be detected early because changes are not reversible.
Stargardt disease is the most common retinal degeneration and has a highly variable phenotype. It is an autosomal recessive disease affecting the ATP-binding cassette associated with the ABCA4 gene. Symptoms include central vision loss, abnormal dark adaptation, abnormal color vision and non-specific visual complaints. findings include pigment mottling, atrophy fundus flecks or a bull's eye appearance. The central vision loss is often slowly progressive, but the disease course is extremely variable.
Age-related macular degeneration and pattern distrophy can lead to a bull’s eye pattern through changes in RPE mottling, atrophy and drusen placement.
Neuronal ceroid lipofucinosis is also known as Batten disease and is a pediatric disease characterized by progressive vision loss, seizures, motor problems, dementia and death.
Ophthalmologu 2016;123:1386-1394 by the Amaerican Academy of Ophthalmology
Westerfield C, Mukai S, Stargard’ts disease and the ABCR gene. Semin Opthalmol 2008:23(1):59-65.
Bozorg S, Ramirez-Montealegre D, Chung M, Pearce D. Juvenile neuronal ceroid lipofuscinosis (JCNL) and the eye. Sury Opthalmol 2009 Jul-Aug;54(4):463-71.