Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Genetic diagnosis
Genotype-phenotype correlation
Japanese population
Retinitis pigmentosa
Rhodopsin
Journal
Japanese journal of ophthalmology
ISSN: 1613-2246
Titre abrégé: Jpn J Ophthalmol
Pays: Japan
ID NLM: 0044652
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
09
07
2022
accepted:
19
11
2022
pubmed:
18
1
2023
medline:
16
3
2023
entrez:
17
1
2023
Statut:
ppublish
Résumé
To identify the genotypic and phenotypic characteristics of rhodopsin (RHO)-associated retinitis pigmentosa (RP) in the Japanese population. Cross-sectional, single-center study METHODS: The medical records of 1336 patients with RP who underwent genetic testing at our clinic between November 2008 and September 2021 were reviewed, and patients with RHO variants were included. The patients were divided into class A and class B to assess genotype-phenotype correlations based on previous reports. The clinical findings, including best-corrected visual acuity (BCVA), OCT parameters (ellipsoid zone [EZ] width and central retinal thickness [CRT]), and presence of macular degeneration, of the 2 groups were compared. The study included 28 patients diagnosed with RHO-associated RP (class A, 19; class B, 9). The BCVA was significantly worse in class A patients than in class B patients (P = 0.045). Superior EZ width was significantly shorter in class A than in class B patients (P = 0.016). Class A patients tended to have thinner CRT and shorter inferior EZ width than those of class B patients, although this difference was not significant. Macular degeneration was observed in 61.5% of class A and 12.5% of class B patients, demonstrating that macular degeneration can be a common complication in class A variants. Patients with class A variants presented with a severer form of RP than that of patients with class B variants in the Japanese population. These results suggest that the phenotype of RHO-associated RP is linked to the location of the variants and that such a genotype-phenotype correlation is less affected by ethnicities with different genetic backgrounds.
Identifiants
pubmed: 36648560
doi: 10.1007/s10384-023-00975-y
pii: 10.1007/s10384-023-00975-y
doi:
Substances chimiques
Rhodopsin
9009-81-8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
138-148Informations de copyright
© 2023. Japanese Ophthalmological Society.
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