Case Reports in Ophthalmology · Published 2026-05-15 · DOI 10.1159/000552545
Lucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, Rachael W.C. Tang, Carlo Rivolta, Beau J. Fenner
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 dystrophy phenotype. Case Presentation: We describe a 65-year-old Chinese female with long-standing nyctalopia and progressive visual field loss. Multimodal retinal imaging demonstrated a peripheral-predominant retinitis pigmentosa phenotype with relative macular sparing, distinct from the previously reported Stargardt-like macular dystrophy associated with the same genotype. Genetic testing identified compound heterozygous stop-gain and frameshift deletion variants in C19ORF44, both predicted to result in loss of function. Conclusion: This case demonstrates that identical genotypes (biallelic loss-of-function variants in C19ORF44) can result in markedly different retinal phenotypes, highlighting substantial genotype-phenotype variability in this newly described IRD.
Abstract from DOAJ. Public domain (CC0 1.0).
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Ng, L., Quinodoz, M., Tan, T., et al. (2026). Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report. Case Reports in Ophthalmology. https://doi.org/10.1159/000552545