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 Coats 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.