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BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.

Retinal cases & brief reports - 1 Jan 2025

Singuri Srinidhi, DeBenedictis Meghan J, Traboulsi Elias I, Yuan Alex, Schur Rebecca M

Abstract excerpt

PURPOSE: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited. METHODS: This was a retrospective case series performed in 2021 at a tertiary eye...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39693487
DOI: 10.1097/ICB.0000000000001520
PMCID: PMC11150326

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