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Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.

Investigative ophthalmology & visual science - 1 Feb 2024

Beryozkin Avigail, Sher Ifat, Ehrenberg Miriam, Zur Dinah, Newman Hadas, Gradstein Libe, Simaan Francis, Rotenstreich Ygal, Goldenberg-Cohen Nitza, Bahar Irit, Blumenfeld Anat, Rivera Antonio, Rosin Boris, Deitch-Harel Iris, Perlman Ido, Mechoulam Hadas, Chowers Itay, Leibu Rina, Ben-Yosef Tamar, Pras Eran, Banin Eyal, Sharon Dror, Khateb Samer

Abstract excerpt

Purpose: To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population. Methods: Medical records of patients diagnosed with Best disease and allied diseases from nine Israeli medical centers over the past 20 years were collected, as were clinical data including ocular findings, electrophysiology results, and retina...

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Bestrophins
BEST1 gene
Genetic Association Studies
Israel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Development and Disorders

Vitelliform Macular Dystrophy

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Identifiers

PMID: 38411968
DOI: 10.1167/iovs.65.2.39
PMCID: PMC10910552

Genes

BEST1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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