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Article

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.

American journal of ophthalmology - 1 Aug 2016

Nakanishi Ayami, Ueno Shinji, Hayashi Takaaki, Katagiri Satoshi, Kominami Taro, Ito Yasuki, Gekka Tamaki, Masuda Yoichiro, Tsuneoka Hiroshi, Shinoda Kei, Hirakata Akito, Inoue Makoto, Fujinami Kaoru, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko

Abstract excerpt

PURPOSE: To report the clinical and genetic findings of 9 Japanese patients with autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective, multicenter observational case series. METHODS: Nine ARB patients from 7 unrelated Japanese families that were examined in 3 institutions in Japan were studied. A series of ophthalmic examinations including fundus photography, spectral-domain optical coherence...

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Source

Identifiers

PMID: 27163236
DOI: 10.1016/j.ajo.2016.04.023

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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