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Article

Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.

Japanese journal of ophthalmology - 1 Mar 2023

Sakai Daiki, Hiraoka Masakazu, Matsuzaki Mitsuhiro, Yokota Satoshi, Hirami Yasuhiko, Onishi Akishi, Nakamura Makoto, Takahashi Masayo, Kurimoto Yasuo, Maeda Akiko

Abstract excerpt

PURPOSE: To identify the genotypic and phenotypic characteristics of rhodopsin (RHO)-associated retinitis pigmentosa (RP) in the Japanese population. STUDY DESIGN: 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...

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PMID: 36648560
DOI: 10.1007/s10384-023-00975-y

Genes

RHO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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