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Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
- Source :
-
Scientific reports [Sci Rep] 2024 Oct 27; Vol. 14 (1), pp. 25669. Date of Electronic Publication: 2024 Oct 27. - Publication Year :
- 2024
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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.<br /> (© 2024. The Author(s).)
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 2045-2322
- Volume :
- 14
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Scientific reports
- Publication Type :
- Academic Journal
- Accession number :
- 39463394
- Full Text :
- https://doi.org/10.1038/s41598-024-77441-3