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Article

Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.

Japanese journal of ophthalmology - 1 May 2026

Tsuboi Takeru, Mizobuchi Kei, Yoshitake Kazutoshi, Kuniyoshi Kazuki, Kominami Taro, Ueno Shinji, Nishiguchi Koji M, Kusaka Shunji, Iwata Takeshi, Hayashi Takaaki, Nakano Tadashi

Abstract excerpt

PURPOSE: To characterize the clinical and genetic features of REEP6-associated retinopathy in 8 Japanese patients from 7 families STUDY DESIGN: Retrospective, multicenter cohort study METHODS: Biallelic REEP6 variants were identified by use of whole-exome sequencing in patients with inherited retinal dystrophy (IRD). Comprehensive ophthalmic assessments were performed in all the patients. RESULTS: Among a...

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Identifiers

PMID: 41553438
DOI: 10.1007/s10384-025-01324-x

Genes

REEP6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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