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Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Ophthalmology - 1 Jul 2024

Laich Yannik, Georgiou Michalis, Fujinami Kaoru, Daich Varela Malena, Fujinami-Yokokawa Yu, Hashem Shaima Awadh, Cabral de Guimaraes Thales Antonio, Mahroo Omar A, Webster Andrew R, Michaelides Michel

Abstract excerpt

PURPOSE: To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults. DESIGN: Single-center retrospective, consecutive, observational study. PARTICIPANTS: Patients with a clinical diagnosis of BVMD from pedigrees with a likely disease-causing monoallelic sequence variant in the BEST1 gene. METHODS: Data were extracted...

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Identifiers

PMID: 38278445
DOI: 10.1016/j.ophtha.2024.01.027
PMCID: PMC11932931

Genes

BEST1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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