Susac’s Syndrome – September 2017

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)

Abnormal Retinal Appearance
Figure 1
Posterior Segment Exam
Figure 2

Differential Diagnosis for occlusive retinal vasculitis

  • Infection (i.e. syphilis, tuberculosis, Lyme disease, Whipple’s deisease)
  • Embolic phenomenon
  • Hypercoagulable states (i.e. antiphospholipid antibodies, prothrombin mutation, antithrombin deficiency, protein C and S deficiencies)
  • Susac’s Syndrome
  • Systemic lupus erythematosus
  • Behcet’s syndrome
  • Polyarteritis nodosa
  • Sarcoidosis
  • Multiple Sclerosis
  • Granulomatosis with polyangitis

Further Testing

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).

Abnormal Retinal Appearance
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).

Abnormal Retinal Appearance
Figure 4
Posterior Segment Exam
Figure 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).

Posterior Segment Exam
Figure 6

Laboratory testing, including infectious, general inflammatory and vasculitis-specific workup were subsequently negative.

Diagnosis

– 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.

Discussion

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.

References

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

Susa, J.O., Murtagh, F.R., Egan, R.A., Berger, J.R., Bakshi, R., Lincoff, N., & Lee, A.G.(2003). MRI Findings in Susac’s Syndrome Neurology 61(12), 1783-1787

Retinochorioidal Coloboma – August 2017

August 2017

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.

PMH:Mild Asthma.

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).

Abnormal Retinal Appearance
Figure 1
Posterior Segment Exam
Figure 2

Differential Diagnosis

  • Congenital Optic Pit
  • Coloboma
  • Combined Coloboma and Optic Pit
  • Glaucoma
  • Staphyloma due to High Myopia
  • Atrophy due to Retinal Insult
  • Systemic Syndromes: CHARGE, Mackel-Gruber, Goltz, Aicardi, Hallermann-Steiff, Goldenhar

Further Testing

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.

Abnormal Retinal Appearance
Figure 3

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).

Abnormal Retinal Appearance
Figure 4
Posterior Segment Exam
Figure 5

Diagnosis

– 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.

Discussion

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.

References

Retina, 5th edition, Ryan et al.2013, Chapter 93, 1583-1588

Pagon, RA. Ocular Coloboma, Surv Ophthalmol. 1981:25(4):223-36

Aronowitz P, Judge J. Coloboma of the Optic Disc and Retina. J Gen Intern Med. 2017

Torpedo Maculopathy – July 2017

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.

Right Eye Fundus Appearance
Right Eye Fundus Appearance
left eye fundus appearance
Left Eye Fundus Appearance
Right Eye OCT
Right Eye OCT
Left Eye OCT
Left Eye OCT

Differential Diagnosis

  • Torpedo Maculopathy
  • Best’s Disease
  • Pseudovitelliform Lesion
  • Hyperpigmentation due to past injury, inflammation or infection
  • Pattern Dystrophy
  • Stargardt’s
  • Central Serous Chorioretinopathy

Discussion

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.

References

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.
doi:10.1001/archophthalmol.2010.29

IRVAN Syndrome – June 2017

June 2017

Case Presentation

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.

Examination

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).

Ocular Exam

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).

Figure1
Figure 1
Figure2
Figure 2

Differential Diagnosis

  • Diabetic Retinopathy
  • Sickle Cell Retinopathy
  • Idiopathic multiple bilateral macroaneurysms
  • Macroaneurysms secondary to poorly controlled hypertension
  • Idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) syndrome

Diagnostic Testing

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).

Figure3
Figure 3
Figure4
Figure 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).

Figure5
Figure 5
Figure6
Figure 6

Diagnosis

The examination was consistent with “idiopathic retinal vasculitis-aneurysms-neuroretinitis” (IRVAN) syndrome.

Follow-Up

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.

Discussion

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)

References

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

April 2017

Case Presentation

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.

Examination

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).

Figure1
Figure 1
Figure2
Figure 2

Differential Diagnosis

  • Macular Degeneration
  • Macular Dystrophy
  • Focal Laser Scarring
  • Epiretinal Membrane
  • Photic/Solar Maculopathy
  • Macular Telangiectasis
  • Toxic Maculopathy (Plaquenil)

Diagnostic Testing

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).

Figure3
Figure 3
Figure4
Figure 4
Figure5
Figure 5
Figure6
Figure 6
Figure7
Figure 7
Figure8
Figure 8

Diagnosis

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.

References

Cohen SM, Cohen ML, El-Jabali F, Pautler SE. Optical coherence tomography findings in nonproliferative group 2a idiopathic juxtafoveal retinal telangiectasis Retina 2007:27(1):59-66

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

March 2017

Case Presentation

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.

Examination

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:

Figure1
Figure 1

Differential

  • Giant Retinal Tear
    • Idiopathic
    • Associated with
      • Marfan syndrome
      • Stickler syndrome
      • High myopia
      • Truama
    • Post-Surgical
      • Broken capsule in cataract surgery
      • Vitrectomy
      • Pneumatic retinopexy
  • Retinal dialysis

Diagnosis

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.

Discussion

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.

References

Retina, 5th edition, Ryan et al.2013, Chapter 109, 1844-1851

Wyburn Mason – February 2017

February 2017

Case Presentation

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.

Examination

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.

Differential Diagnosis

  • Arterio-Venous Malformation
  • Retnial Hemangioma
  • Retinal Capillary Heamngioblastoma (i.e. retinal angioma of von Hipple-Lindau)
  • Retinal Vasoproliferative Tumor (primary or secondary)

Diagnostic Testing

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).

Figure1
Figure 1
Figure1
Figure 2
Figure1
Figure 3
Figure1
Figure 4

Diagnosis

Given the typical appearance on clinical examination and imaging studies, a diagnosis of arterio-venous malformation on the Wyburn-Mason syndrome spectrum was made.

Follow-Up

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.

Discussion

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
  • orbit
  • 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

Skin Findings

  • Nevi: subtle and uncommon

Visual complications are are but can occur if the malformation is leaking and resulting in macular edema.

References

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.

Kolomeyer AM, Laviolette R, Winter TW. Wyburn-Mason Syndrome Ophthalmology. 2016 Jan;123(1):50.

Bhojwani D, Vachhrajani M, Vasavada A. Wyburn Mason Syndrome: A Rare Phacomatosis Ophthalmology. 2016 Aug;123(8):1787.

Pattern Dystrophy – January 2017

January 2017

Case Presentation

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.

Further History

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.

Examination

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.

Fundus Photo

Figure1
Figure 1
Figure1
Figure 2

FAF

Figure1
Figure 3
Figure1
Figure 4

OCT

OCT 1
OCT 1
OCT 2
OCT 2

Differential

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
  • Pattern dystrophy
  • Cone dystrophy
  • Rod and cone dystrophy
  • Startgardt’s disease
  • 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.

Discussion

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.

References

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.

Retinal Vasculitis – December 2016

December 2016

Case Presentation

A 19 year old was referred to Illinois Retina Associates for light sensitivity, blurry vision, and floaters in her left eye.

She was known for Sjogren’s syndrome, anemia and migraines, and was taking Plaquenil for the past year.

She had a history of intermittent floaters OS since an episode of retinal vasculitis OS which occurred shortly after an episode of mononucleosis 2 years ago. The causative agent for the mononucleosis was believed to be the Epstein-Barr virus (EBV), confirmed through laboratory testing.

Examination

Her corrected visual acuity was 20/20 in the right eye, and 20/30 in the left eye, not improved with pinhole. Anterior segment examination was unremarkable. On posterior segment examination, there was a mild vitreous hemorrhage, scattered areas of vascular sheathing and neovascularization OS. The exam of the right eye was within normal limits.

Diagnostic Testing

Fundus photography (Figure 1) and fluorescein angiogram (Figures 2 & 3) confirmed the presence of vitreous hemorrhage, areas of retinal ischemia and neovascularization OS. Optical coherence tomography showed irregularity of retinal layers but no edema OS (Figure 4). All imaging studies were normal OD.

Figure1
Figure 1
Figure1
Figure 2
Figure1
Figure 3
Figure1
Figure 4

Differential Diagnosis

  • Infectious Vasculitis
    • Viral (CMV, VZV, EBV)
    • Bacterial (Syphilis, Tuburculosis)
  • Inflammatory Vasculitis
    • Sarcoidosis
    • Behcet Disease
    • Systemic Lupus Erythematosis
    • Inflammatory Bowel Disease
    • Multiple Sclerosis
  • Idiopathic Retinitis, vasculitis, aneurysms and neuroretinitis (IRVAN) syndrome

Diagnosis

All laboratory investigations were normal and the diagnosis was established as EBV-related retinal vasculitis with secondary retinal ischemia, neovascularization and vitreous hemorrhage.

Follow-Up

Given the presence of extensive retinal ischemia, multiple areas of neovascularization and vitreous hemorrhage, pan-retinal photocoagulation treatment was recommended to decrease risk of recurrent hemorrhage or other complications such as retinal traction or detachment. The vitreous hemorrhage spontaneously improved over time.

Discussion

Many local as well as systemic diseases may lead to retinal vasculitis. It is crucial to identify the cause of the vasculitis and rule out systemic involvement to prevent complications. Some forms of retinal vasculitis may benefit from systemic immunomodulatory therapy.

If the vasculitis is only affecting the retina, fluorescein angiogram is essential in order to identify retinal ischemia and neovascularization. In such advanced cases, pan-retinal photocoagulation can be applied to prevent visual loss from vitreous hemorrhage or retinal detachment.

Macular edema can also be present in vasculitis. Macular OCTs are helpful in identifying and quantifying the edema. When present, macular edema may result in decreased vision and may respond to drops (Corticosteroids, non-steroidal anti-inflammatories), local steroid injections, or systemic immunosuppressants.

References

Keorochana N. A Case Report of Epstein-Barr Virus-associated Retinal Vasculitis: Successful treatment using only acyclovir therapy. Int. Med Case Rep J. 2016 Jul 25; 9:213-8.

Rosenbaum JT, Sibley CH, Lin P. Retinal Vasculitis. Curr Opin Rheumatol 2016 May; 28(3):228-35.

Talat L, Lightman S, Tomkins-Netzer O. Ischemic Retinal Vasculitis and its management. J. Ophthalmol 2014;2014:197675

Artery Occlusion – November 2016

November 2016

Case Presentation

A 37 year old previously followed at Illinois Retina Associates for lattice degeneration presented with abrupt loss of vision on the left eye. It was described as flashes and floaters followed by a veil over her entire visual field about one (1) hour prior to arrival.

Further History

The patient had a history of hypertension not currently requiring medication and seasonal allergies. Her only medication was an oral contraceptive.

Examination

VA

  • 20/25 OD
  • Hand Motion OS

Pressures were 14 mmHg (OD) and 16 mmHg (OS)

Pupils were equal and reactive with an RAPD OS.

The anterior segments were unremarkable.

The right eye posterior segment exam showed stable lattice degeneration in the right eye. The left eye also had stable lattice degeneration and was initially unremarkable. However, on repeat exam about 30 minutes later subtle whitening of the macula with a cherry red spot was appreciated (Figure 1).

Figure1
Figure 1

Imaging

Angiography revealed extremely delayed filling in the left eye (Figures 2 & 3)

Figure1
Figure 2
Figure1
Figure 3

Differential Diagnosis

Differential diagnosis for central retinal artery occlusion includes Susac syndrome, giant cell arteritis, artherosclerotic disease, cardiac disease, coagulopathy, collagen vascular disease, arterial loops, migraine, hypotension and trauma.

Treatment

The patient was sent to the emergency department for supplemental oxygen therapy and was found to have elevated blood pressure of 205/129.

She was diagnosed with a central retinal artery occlusion secondary to malignant hypertension.

Follow-Up

Two weeks later vision was 20/25 in both eyes. The cherry red spot had resolved and only a few cotton wool spots remained.

Discussion

Central retinal artery occlusions are most common in those in their 6th decade of life. Men are more often affected than women. Acutely, patients notice a severe decrease in vision. At presentation they may appear normal or have a cherry red spot in the middle of the fundus. A cilioretinal artery may perfuse the fovea in 15% of patients. Such patients have an 80% chance of returning to 20/50 vision or better. Those without cilioretinal perfusion of their fovea have a much more guarded visual prognosis.

Many treatment shave been purposed includeing: breathing an increased concentration of carbon dioxide, an increased concentration of oxygen (including trials of hyperbaric oxygen), lowering the intraocular pressure via paracentesis or pharmacologically to nudge the obstruction further down the arterial tree, and using intraarterial TPA to dissolve the clot. None of these has been established as a standard of care.

It is important to realize that there is a high rate of stroke after retinal artery occlusion with a 15 times increase in stroke rate in the first 30 days after onset. Thus, these patients need a full workup with their primary care physicians to minimize stroke risks. Some even advocate sending these patients to emergent stroke centers for acute management of risk.

References

Atebara NH, Brown GC, Cater J. Efficacy of anterior chamber paracentesis and Carbogen in treating nonarteritic central retinal arterial occlusion. AM J Ophthalmol 1995; 102:2029-2034.

Brown GC, Margargal LE. Central retinal obstruction and visual acuity. Ophthalmology 1982;89:14-19.

Recchia FM, Brown GC. Systemic disorders associated with retinal vascular occlusion. Curr Opin Ophthalmol 2000;11:462-467

Sang Jun Park, Nam-Kyong Choi, Bo Ram Yang, Kyu Hyung Park, Joongyub Lee, Sun-Young Jung, Se Joon Woo. Risk and Risk Periods for Stroke and Acute Myocardial Infarction in Patients with Central Retinal Artery Occlusion, Ophthalmology 2015;122:11