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Article

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.

Retina (Philadelphia, Pa.) - 1 Aug 2016

Toto Lisa, Boon Camiel J F, Di Antonio Luca, Battaglia Parodi Maurizio, Mastropasqua Rodolfo, Antonucci Ivana, Stuppia Liborio, Mastropasqua Leonardo

Abstract excerpt

PURPOSE: To describe the variable ocular phenotype associated with a heterozygous mutation in the BEST1 gene. METHODS: Clinical and genetic assessment was performed in five members of the same family. Molecular genetic analysis of the BEST1 gene was performed by direct sequencing. Extensive ophthalmic examination included color fundus imaging, spectral domain optical coherence tomography, fundus autofluorescence,...

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Source

Identifiers

PMID: 26716959
DOI: 10.1097/IAE.0000000000000950

Genes

BEST1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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