A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy

Abstract Background Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the BEST1 gene. Clinically, ARB presents with variable features including central visual impairment, global photoreceptor dysfunction (as indicate...

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Bibliographic Details
Main Authors: Nagham Maher Elbagoury, Caroline Atef Tawfik, Asmaa Fawzy Abdel-Aleem, Heba Mahmoud Fathy, Dina Nabil Baddar, Mona Lotfi Essawi
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Africa
Autosomal recessive bestrophinopathy
BEST1 gene
Egypt
Founder effect
Missense variant
Online Access:https://doi.org/10.1186/s13023-025-03813-1
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https://doi.org/10.1186/s13023-025-03813-1

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