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Article

[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti - 1 Jan 2000

Kousal B, Chakarova F, Black G C, Ramsden S, Langrová H, Lisková P

Abstract excerpt

PURPOSE: To describe the phenotype in an asymptomatic 64-year-old patient with family history of Best disease and to identify the disease causing variant in the BEST1 gene. METHODS: Detailed ocular examination of the proband including spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography and electrooculography was performed. Direct sequencing approach was used to screen the whole coding...

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Source

Identifiers

PMID: 22448417

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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