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Article

Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2009

Gerth Christina, Zawadzki Robert J, Werner John S, Héon Elise

Abstract excerpt

The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V)...

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Source

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Identifiers

PMID: 18985398
DOI: 10.1007/s10633-008-9154-5
PMCID: PMC2715889

Genes

RPE
BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18985398-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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