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Article

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2016

Kubota Daiki, Gocho Kiyoko, Akeo Keiichiro, Kikuchi Sachiko, Sugahara Michitaka, Matsumoto Celso Soiti, Shinoda Kei, Mizota Atsushi, Yamaki Kunihiko, Takahashi Hiroshi, Kameya Shuhei

Abstract excerpt

PURPOSE: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. METHODS: The patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Mutation analysis of the BEST1...

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Source

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Identifiers

PMID: 27071392
DOI: 10.1007/s10633-016-9540-3
PMCID: PMC4880638

Genes

BEST1

Variants

Provenance

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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