Abstract

A female patient presented with stable chronic thrombocytopaenia with large platelets, sensorineuronal deafness and renal impairment. Her treatment was refractory to intravenous immunoglobulins (IVIG) and steroids for a putative diagnosis of immune thrombocytopaenic purpura (ITP). She underwent genetic testing which revealed a MYH9 mutation in-keeping with a diagnosis of Epstein Syndrome. Subsequently to this she developed globally constricted fields on Goldmann visual field testing. MRI pituitary was unremarkable but she was diagnosed with a pituitary microprolactinoma secondary to raised prolactin in the blood responsive to carbegoline therapy. She subsequently developed retinal haemorrhages and recurrent vitreous haemorrhages due to neovascularisation. Fluorescein angiography revealed the extent of the neovascularisation and microvascular ischaemia. She underwent pan-retinal photocoagulation (PRP) to treat the ischaemic stimulus which resulted in regression of the new vessels and cessation of vitreous haemorrhages. There are no previous reported cases of microvascular retinal disease in the literature in the context of Epstein Syndrome, and this is the first report of successful treatment with PRP.