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Article

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Investigative ophthalmology & visual science - 3 May 2021

Pfister Tyler A, Zein Wadih M, Cukras Catherine A, Sen Hatice N, Maldonado Ramiro S, Huryn Laryssa A, Hufnagel Robert B

Abstract excerpt

Purpose: Autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy (VMD) are distinct phenotypes, typically inherited through recessive and dominant patterns, respectively. Recessively inherited VMD (arVMD) has been reported, suggesting that dominant and recessive BEST1-related retinopathies represent a single disease spectrum. This study compares adVMD, arVMD, and ARB to determine whether a...

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Identifiers

PMID: 34015078
DOI: 10.1167/iovs.62.6.22
PMCID: PMC8142704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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