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Figure 1. These color fundus photographs show A) The right eye, showing tractional membranes, hemorrhages, ghost vessels and retinal avascularity, and B) The left eye showing temporal traction on the optic nerve, hemorrhages, ghost vessels and sunburst appearance inferotemporally, with fibrotic and avascular retina superonasally.
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Figure 2. Fluorescein angiography of A) The patient’s right eye, showing leakage at optic disc, avascular retina superiorly, neovascularization in the superonasal and temporal retina, and B) The left eye, showing a large avascular region superiorly and peripheral neovascularization with leakage of dye.
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Figure 3. Optical coherence tomography imaging shows the patient’s right eye and demonstrates an epiretinal membrane and optic nerve traction, causing retinal schisis nasally.
A 16-year-old girl was referred for evaluation of retinal hemorrhages. She was asymptomatic and had no prior ocular trauma or surgery. Her past medical history was significant for parvovirus B19 infection, exercise induced reactive airway disease, aplastic anemia and sickle cell disease, causing acute chest syndrome and pain crises. Her medication list included nonsteroidal anti-inflammatory drugs, oral analgesics and bronchodilators. She was not using any ocular medications.
Her Snellen’s best corrected visual acuity was 20/25 in both eyes. There were no visual field deficits in either eye by counting fingers. Intraocular pressure was 16 mm Hg in the right eye and 15 mm Hg in the left. Anterior segment examination was unremarkable. Dilated fundus exam of the right eye showed traction membranes on the optic disc as well as in the temporal retina, associated with hemorrhages. A sunburst appearance was seen inferonasally. There was retinal avascularity superotemporally with ghost vessels. Dilated fundus exam of the left eye showed temporal traction on the optic nerve, along with hemorrhages, ghost vessels temporally and a sunburst appearance inferotemporally. The superonasal retina appeared fibrotic and avascular. Vitreous of both eyes was clear and optic nerves appeared pink and healthy.
Multimodal imaging was performed. Color fundus photographs (CFP) were consistent with examination findings (Figure 1). Fluorescein angiography (FA) of the right eye revealed leakage of dye at the disc, hypofluorescence of the superior and superotemporal retina indicating avascularity, and leakage from neovascularisation in the superonasal and temporal retina. FA of the left eye revealed diffuse hypofluorescence with large avascular retina superiorly and leakage from neovascularisation superonasally, temporally and inferotemporally (Figure 2). Optical coherence tomography (OCT) of the right eye demonstrated an epiretinal membrane and traction of the optic nerve, leading to nasal schisis. OCT of the left eye was normal (Figure 3).
Sickle cell disease is an autosomal recessive condition, that produces abnormal hemoglobin which tends to irreversibly crystallize from its soluble form under hypoxic conditions.1 This conversion deforms the flexible red blood cells (RBC) into rigid sickle-shaped cells that are no...
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Sickle cell disease is an autosomal recessive condition, that produces abnormal hemoglobin which tends to irreversibly crystallize from its soluble form under hypoxic conditions.1 This conversion deforms the flexible red blood cells (RBC) into rigid sickle-shaped cells that are no longer able to traverse narrow capillaries. Trapping of the RBC in small vessels occludes blood flow, leading to vaso-occlusive disease and avascularity in the anterior and posterior segments of the eye.2
Anterior segment manifestations include typically spontaneous hyphema or after minor trauma.2 Posterior segment disease is known as sickle cell retinopathy (SCR) and can present as nonproliferative or proliferative disease.
Nonproliferative retinopathy typically presents with salmon patches (orange-pink superficial intraretinal hemorrhages) that resolve with iridescent spots and a classic “black sunburst appearance” due to pigment epithelial hyperplasia, as seen in our patient.2 Proliferative SCR is the primary cause of vision loss and results from peripheral retinal arteriolar occlusion, producing local ischemia. This stimulates vascular growth factors leading to new vessel proliferation in the form of the classic peripheral sea-fan neovascularization and fibrosis.2,3 These can predispose to vitreous hemorrhage, tractional membranes and ultimately retinal detachment.4
Although peripheral neovascularization has a high rate of spontaneous regression, proliferative SCR should be treated to prevent these sight-threatening complications, particularly in the presence of bilateral disease or monocular patients.2 The optimal approach is laser photocoagulation, with feeder vessel technique or with scatter photocoagulation.2
Given the history of sickle cell disease and the classic findings on exam and imaging, this patient was diagnosed with proliferative sickle cell retinopathy, and underwent laser photocoagulation of both eyes.
Differential diagnosis includes diabetic retinopathy that presents with microaneuryms and hard exudates, but can also manifest with vascular changes, retinal hemorrhages and neovascularization. However, these are frequently confined to the posterior pole, whereas SCR typically involves the periphery with normal appearance of the vasculature at the posterior pole.3 Inflammatory retinal vasculitis typically shows perivascular cuffing, retinal and macular edema and sheathing of vessels, with subsequent sclerosis.5 Although prominent neovascular fronds are atypical, it can present with vitreous hemorrhage. Familial exudative vitreoretinopathy (FEVR) presents with peripheral neovascularization and avascularity, with dragging of the retina due to traction.6 However, a diagnosis of FEVR is unlikely, in the absence of a family history of retinal disease, older age of the patient at presentation, lack of organized vitreous membranes, retinal folds or subretinal exudates.
This case was submitted by Neha Arora, MBBS, MS, and Sandra Hoyek, MD.
Nimesh A. Patel, MD, was clinical editor of this case.
Dr Arora is an MS in Ophthalmology from Sri Ramachandra Institute of Higher Education and Research, Chennai, India, and currently a research trainee at Massachusetts Eye and Ear Infirmary, Boston. Dr Hoyek is a postdoctoral research fellow in Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School, Boston.
Dr Patel is an Assistant Professor of Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School and Director of Pediatric Retina at Boston Children’s Hospital, Boston.
References
1. Goldberg MF. Classification and pathogenesis of proliferative sickle retinopathy. Am J Ophthalmol. 1971;71(3):649-665. doi:10.1016/0002-9394(71)90429-6
2. Emerson GG, Lutty GA. Effects of sickle cell disease on the eye: clinical features and treatment. Hematol Oncol Clin North Am. 2005;19(5):957-973, ix. doi:10.1016/j.hoc.2005.07.005
3. Jampol LM, Goldbaum MH. Peripheral proliferative retinopathies. Surv Ophthalmol. 1980;25(1):1-14. doi:10.1016/0039-6257(80)90071-5
4. Goldberg MF. Natural history of untreated proliferative sickle retinopathy. Arch Ophthalmol Chic Ill 1960. 1971;85(4):428-437. doi:10.1001/archopht.1971.00990050430006
5. Ali A, Ku JH, Suhler EB, Choi D, Rosenbaum JT. The course of retinal vasculitis. Br J Ophthalmol. 2014;98(6):785-789. doi:10.1136/bjophthalmol-2013-303443
6. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68(4):578-594. doi:10.1016/0002-9394(69)91237-9
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