1. Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
- Author
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Natsume K, Kominami T, Goto K, Koyanagi Y, Inooka T, Ota J, Kawano K, Yamada K, Okuda D, Yuki K, Nishiguchi KM, and Ushida H
- Subjects
- Adolescent, Adult, Aged, Child, Female, Humans, Male, Middle Aged, Young Adult, Codon, Nonsense, Cone-Rod Dystrophies genetics, East Asian People genetics, Electroretinography, Genetic Association Studies, Japan, Mutation, Retinitis Pigmentosa genetics, Retrospective Studies, Eye Proteins genetics, Phenotype, Retinal Dystrophies genetics
- Abstract
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*), is associated with RP1-IRD, but the exact role of this mutation in genotype-phenotype correlation remains unclear. In this study, we retrospectively analyzed patients with RP1-IRD (N = 42) from a single center in Japan. AR RP1-IRD patients with the c.5797 C > T mutation (N = 14) mostly displayed macular dystrophy but rarely retinitis pigmentosa or cone-rod dystrophy. Conversely, AR RP1-IRD patients without the c.5797 C > T mutation, including those with other pathogenic RP1 variants, were mostly diagnosed with severe retinitis pigmentosa. Full-field electroretinograms were significantly better in patients homozygous or compound heterozygous for the c.5797 C > T mutation than in those without this mutation, corresponding to their milder phenotypes. Clinical tests also revealed a slower onset of age and a better mean deviation value with the static visual field in AR RP1-IRD patients with the c.5797 C > T mutation compared to those without. Therefore, the presence of c.5797 C > T may partly account for the phenotypic variety of RP1-IRD and may yield milder phenotypes. These findings may be useful for predicting the prognosis of RP1-IRD patients., (© 2024. The Author(s).)
- Published
- 2024
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