A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

Abstract Purpose To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. Methods Two siblings underwent a complete ophthalmic examination,...

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Bibliographic Details
Main Authors: Obaid Imtiyazul Haque, Anbukayalvizhi Chandrasekaran, Faisal Nabi, Owais Ahmad, João Pedro Marques, Tanweer Ahmad
Format: Article
Language:English
Published: BMC 2022-12-01
Series:BMC Ophthalmology
Subjects:
Autosomal recessive bestrophinopathy
BEST1
Bestrophin-1
Inherited retinal dystrophy
Genetics
Online Access:https://doi.org/10.1186/s12886-022-02703-5

Internet

https://doi.org/10.1186/s12886-022-02703-5

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