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A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.

Retina (Philadelphia, Pa.) - 1 Sept 2016

Peiretti Enrico, Caminiti Giulia, Forma Gina, Carboni Giovannella, Dhaenens Claire-Marie, Querques Lea, Souied Eric, Querques Giuseppe

Abstract excerpt

PURPOSE: To report the atypical phenotypic characteristics of patients with a novel p.Asp304Gly mutation in BEST1. METHODS: Affected individuals underwent a complete ophthalmic examination, including best-corrected visual acuity, fundus autofluorescence, spectral domain optical coherence tomography, and electrophysiologic testing. All individuals were screened for mutations in the BEST1 gene. RESULTS: Five...

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Identifiers

PMID: 26807628
DOI: 10.1097/IAE.0000000000000966

Genes

BEST1

Variants

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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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