ISSN: 2459-1777 | E-ISSN 2587-0394
Volume : Issue : Year : 2024
A Case of Autosomal Recessive Retinitis Pigmentosa with Vitelliform-Like Appearance at the Macula Associated with Novel MYO7A Variant P.Ser383TrpfsTer64 [Beyoglu Eye J]
Beyoglu Eye J. Ahead of Print: BEJ-90235 | DOI: 10.14744/bej.2024.90235

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

Cumaali Yaman, Berrak Sekeryapan, Taha BAHSİ, Mehmet Yasin Teke
Department of Ophtalmology, Etlik City Hospital,Ankara,Turkey

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 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.

Keywords: Retinitis pigmentosa, vitelliform-like macula, MYO7A

Corresponding Author: Cumaali Yaman, Türkiye
Manuscript Language: English
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