SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland

Introduction

Inherited childhood-onset retinal dystrophies comprise Leber congenital amaurosis (LCA; OMIM #204 000) and juvenile retinitis pigmentosa (RP; OMIM #268000). LCA is considered the more aggressive manifestation due to early loss of central vision and subsequent development of nystagmus, whereas juvenile RP has a later onset in childhood and initially affects the periphery [1], [2]. In 2009, SPATA7 was first identified as a causative gene for both LCA and juvenile RP (OMIM# 604 232) [3].

Publikationsverlauf

Eingereicht: 13. Oktober 2022

Angenommen: 21. Dezember 2022

Artikel online veröffentlicht:
25. April 2023

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