Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge

ABSTRACT Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration. Retinitis Pigmentosa (RP) is a less co...

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Bibliografische Detailangaben

Hauptverfasser:	Na Li, Yalong Dang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2026-01-01
Schriftenreihe:	Clinical Case Reports
Schlagworte:	ABCA4 macular sparing retinal degeneration retinitis pigmentosa sanger sequencing whole‐exome sequencing
Online-Zugang:	https://doi.org/10.1002/ccr3.71545
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