PURTSCHER-LIKE RETINOPATHY ASSOCIATED WITH ATYPICAL HEMOLYTIC UREMIC SYNDROME: CASE REPORT AND REVIEW OF OUTCOMES.

PURPOSE: The purpose of this study was to report the case of a patient presenting with newly diagnosed atypical hemolytic uremic syndrome (aHUS) and Purtscher-like retinopathy. METHODS: This is an observational case report and review of literature. A 38-year-old woman presented with 3 months of rashes, fevers, arthralgias, and abdominal pain. Initial workup was suggestive of hypereosinophilic syndrome or adult-onset Still's disease. The patient developed acute renal failure and progressively blurry vision bilaterally over the course of 5 days. Funduscopic examination was notable for numerous Purtscher flecken and cotton-wool spots, with rare intraretinal hemorrhages at the posterior pole. The constellation of renal failure, hemolytic anemia, and thrombocytopenia prompted a workup for thrombotic microangiopathy that was remarkable for a mutation in the gene coding for complement protein C9. RESULTS: The patient was diagnosed with aHUS and treated with intravenous pulse dose steroids for 3 days and an extended course of eculizumab. The patient's renal failure resolved, and her visual acuity improved, although she had residual visual field constriction and developed bilateral optic atrophy. Outcomes of other cases of Purtscher-like retinopathy related to aHUS are reviewed. CONCLUSION: Purtscher-like retinopathy is a rare but severe ophthalmic complication of aHUS. Eculizumab is an effective treatment for the systemic illness caused by aHUS, and anatomical resolution of Purtscher-like retinopathy may follow, although visual prognosis remains guarded. Recovery of visual acuity may lag behind resolution of macular edema in these patients.

Metastatic neuroendocrine tumors mimicking as primary ocular disease.

PURPOSE: To report two cases of metastatic neuroendocrine tumors masquerading as primary ocular disease. OBSERVATIONS: Case 1 is a 38-year-old man who was referred with subacute onset diplopia and fluctuating ptosis suggestive of myasthenia gravis. Case 2 is a 21-year-old man who presented with blurry vision and was found to have a pigmented ciliary body mass and retinal detachment suggestive of uveal melanoma. Both patients were ultimately diagnosed with metastatic neuroendocrine tumors. CONCLUSIONS AND IMPORTANCE: Neuroendocrine tumors, though rare and infrequently metastatic to the eye and orbit, can initially present with ocular signs. A broad differential and careful consideration of ocular and systemic symptoms are critical in such challenging cases.

VITREOUS HEMORRHAGE IN TYPE 3 GAUCHER DISEASE: AN ANGIOGRAPHIC AND PATHOLOGIC ANALYSIS.

PURPOSE: To describe the case of a 12-year-old woman with vitreoretinal manifestations of Type 3 Gaucher disease. METHODS: A retrospective case report including multimodal imaging and histologic examination of the vitreous. RESULTS: A 12-year-old woman with a history of Gaucher disease Type 3 was referred to the ophthalmology service for evaluation of vitreous deposits in both eyes. Funduscopic examination was notable for white vitreous opacities in both eyes. Ultra-widefield fluorescein angiography demonstrated areas of blockage associated with the deposits and focal areas of leakage. Optical coherence tomography angiography showed shadow artifact without intrinsic flow at these sites. Three years after presentation, she developed a right hemorrhagic posterior vitreous detachment, requiring pars plana vitrectomy with scleral buckle. A vitreous sample was sent to pathology, which demonstrated Gaucher cells. CONCLUSION: Gaucher disease is a rare metabolic condition caused by an autosomal recessive deficiency of glucocerebrosidase. To the best of our knowledge, this is the first report of hemorrhagic posterior vitreous detachment in Type 3 Gaucher disease, including ultra-widefield imaging, optical coherence tomography angiography, and histopathology.

Eplerenone as a novel treatment for persistent subretinal fluid following retinal detachment surgery.

PURPOSE: To describe the clinical course of a patient with persistent subretinal fluid (SRF) after primary scleral buckle surgery for a rhegmatogenous retinal detachment (RRD) repair who was subsequently treated with oral eplerenone for resolution of SRF. OBSERVATIONS: A 34 year-old-male presented with a large bullous macula-involving RRD of unknown duration and underwent primary scleral buckle and retinotomy for drainage of subretinal fluid (SRF). His post-operative course was characterized by persistent macular SRF for 1.5 years with poor vision largely unchanged from his pre-operative presentation. Patient declined additional surgical treatment and opted for conservative management. Given such persistent SRF, the patient was trialed on a course of oral eplerenone 50 mg po bid. After only one month on this therapy, a marked decline in SRF was noted with near complete resolution after two months. CONCLUSIONS AND IMPORTANCE: To our knowledge, this is the first report of its kind to show the effectivity of oral eplerenone treatment in the reduction of SRF following retinal detachment surgery.