ArticleRetinal cases & brief reports2025
BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.
Article in Retinal cases & brief reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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Who cites it
2 citing papers in PubMed.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.Current issues in molecular biology · 2024Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
purposeBest 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.
methodsThis was a retrospective case series performed in 2021 at a tertiary eye care center. PATIENTS: Three members of one family referred to a tertiary eye care clinic for evaluation of their autosomal dominant macular dystrophy.
resultsStudy subjects presented with atypical findings of peripheral schisis-like lesions and atrophy with abnormal electroretinogram in addition to typical macular lesions found in best vitelliform macular dystrophy. Genetic analyses identified a heterozygous BEST1 c.227T>A, p.(Ile76Asn) pathogenic variant in all three subjects.
conclusionThis study represents the first report of the phenotype associated with the c.227T>A, p.(Ile76Asn) BEST1 variant, which-while mentioned twice in the literature-has not been previously described. The phenotype is unique, comprising features of typical best vitelliform macular dystrophy with electroretinogram and peripheral findings, suggestive of a panretinal dysfunction.
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