Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs

Abstract

A 2‐year‐old girl presented with thrombocytopenic purpura. Clinical examination and follow‐up documented severe bone marrow hypoplasia associated with bilateral progressive Coasts retinopathy, nail dystrophy, fine hair, and apparent chromosome instability. The syndrome is regarded as a variant of the Révész syndrome sharing some findings of dyskeratosis congenita.