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Article

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

Investigative ophthalmology & visual science - 1 Dec 2015

Lee Christopher Seungkyu, Jun Ikhyun, Choi Seung-Il, Lee Ji Hwan, Lee Min Goo, Lee Sung Chul, Kim Eung Kweon

Abstract excerpt

PURPOSE: To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS: Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence imaging,...

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Source

Identifiers

PMID: 26720466
DOI: 10.1167/iovs.15-18168

Genes

BEST1
ERG

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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