A Case of Autosomal Recessive Retinitis Pigmentosa with Vitelliform-Like Appearance at the Macula Associated with Novel MYO7A Variant P.Ser383TrpfsTer64.

Abstract

Retinitis pigmentosa (RP) is an inherited disease involving progressive degeneration of rod and cone photoreceptors. It is highly heterogeneous and the resulting clinical phenotypes may differ in age at onset, progression, and severity. Mutations in the myosin VIIA (MYO7A) gene have been known to cause Usher syndrome, a condition characterized by RP and deafness. In this report, we present a rare case of RP without hearing loss associated with a novel MYO7A variant, p.Ser383TrpfsTer64. With this case, we also wanted to draw attention to the rare vitelliform-like appearance in the macula in patients with RP.