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Article

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.

Investigative ophthalmology & visual science - 18 Jul 2011

Bitner Hanna, Mizrahi-Meissonnier Liliana, Griefner Gabriel, Erdinest Inbar, Sharon Dror, Banin Eyal

Abstract excerpt

PURPOSE: Best disease is a monogenic macular degeneration caused mainly by heterozygous mutations in the BEST1 gene. The objective was to characterize the molecular and clinical features of patients with the classical form of Best disease that is inherited in an autosomal recessive mode. METHODS: Clinical evaluation included detailed family history, a full ophthalmologic examination, electro-oculography (EOG),...

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Source

Identifiers

PMID: 21467170
DOI: 10.1167/iovs.11-7174

Genes

BEST1

Provenance

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