Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <i>ABCA4</i> Allele from Eastern Africa: Two Case Reports.

ABSTRACT:

Introduction

Biallelic pathogenic variants in the ABCA4 gene are the leading cause of inherited retinal diseases. Over 1,200 pathogenic or likely pathogenic ABCA4 variants have been reported, resulting in a broad clinical spectrum of ABCA4-retinal dystrophies (ABCA4-RD), with Stargardt disease being the most common. Most patients with ABCA4-RD are compound heterozygotes, carrying two pathogenic ABCA4 variants in trans.

Case presentation

We report 2 unrelated patients with early-onset (≤12 years) Stargardt disease, both found to be homozygous for a complex ABCA4 allele containing the hypomorphic c.5882G>A p.(Gly1961Glu) variant and the c.634C>T p.(Arg212Cys) variant. Both patients underwent detailed clinical assessment and genetic scr

SUBMITTER: Aslaksen S 

PROVIDER: S-EPMC12503724 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature