DOI: 10.1097/icb.0000000000001520 ISSN: 1935-1089

BEST1 Variant Associated with an Atypical Macular and Peripheral Retinal Phenotype

Srinidhi Singuri, Meghan J. DeBenedictis, Elias I. Traboulsi, Alex Yuan, Rebecca M. Schur
  • Ophthalmology
  • General Medicine
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Purpose:

Best vitelliform macular dystrophy (BVMD) is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 (BEST1) gene. While several of the types of lesions of BVMD are well-described, reports of phenotypic variations associated with rare genetic variants are limited.

Methods:

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.

Results:

Study subjects presented with atypical findings of peripheral schisis-like lesions and atrophy with abnormal electroretinogram (ERG) in addition to typical macular lesions found in BVMD. Genetic analyses identified a heterozygous BEST1 c.227T>A, p.(Ile76Asn) pathogenic variant in all three subjects.

Conclusions:

This 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 BVMD with ERG and peripheral findings, suggestive of a panretinal dysfunction.

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