Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report

Introduction: C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary genotype demonstrated a Stargardt-like macular dystr...

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Váldodahkkit:	Lucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, Rachael W.C. Tang, Carlo Rivolta, Beau J. Fenner
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Karger Publishers 2026-05-01
Ráidu:	Case Reports in Ophthalmology
Liŋkkat:	https://karger.com/article/doi/10.1159/000552545
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