Article
The use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder.
BMJ case reports - 29 Dec 2019
Sanders Francis William Barwise, Thompson Emma, Roberts Harry, Gupta Nitin
Abstract excerpt
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...
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