Author

Isabella V. Y. Gomes

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Open access Oct 2026

Phenotypic variability of a dominant CRX mutation and molecular insights into pathogenesis.

CRXP197Rfs is a dominant-negative allele that produces cone-rod dystrophy with variable intrafamilial phenotypes that caution against genotype-based prognostication and support mutant-allele knockdown with gene augmentation as therapeutic strategies.

Isabella V. Y. Gomes, Chi Sun, Xiao-Dong Zhang et al. · Ophthalmic Genetics · 0 citations