Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis.

Purpose To describe the case of a 12-year-old female with vitreoretinal manifestations of Type 3 Gaucher disease. Methods Retrospective case report including multimodal imaging and histologic examination of the vitreous. Results A 12-year-old female 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 as well as focal areas of leakage. OCT 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. Discussion Gaucher disease is a rare metabolic condition caused by an autosomal recessive deficiency of glucocerebrosidase. To our knowledge, this is the first report of hemorrhagic posterior vitreous detachment in Type 3 Gaucher disease, including ultra-widefield imaging, OCT angiography, and histopathology.