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Article

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

The British journal of ophthalmology - 1 Nov 2008

Testa F, Rossi S, Passerini I, Sodi A, Di Iorio V, Interlandi E, Della Corte M, Menchini U, Rinaldi E, Torricelli F, Simonelli F

Abstract excerpt

AIMS: To describe clinical and genetic findings in an Italian family affected by Best disease. METHODS: Five related patients underwent a complete ophthalmological assessment; genetic testing was performed by single-strand conformation polymorphism analysis and direct sequencing of the BEST1 gene. RESULTS: In three of five family members, the sequence analysis of the BEST1 gene revealed a single Phe-to-Leu...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

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Source

Identifiers

PMID: 18703557
DOI: 10.1136/bjo.2008.143776

Genes

BEST1

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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