Identification and functional characterization of <i>ABCA4</i> gene variants in three patients with Stargardt disease or retinitis pigmentosa.

ABSTRACT:

Introduction

The diversity of phenotypes, ranging from inherited retinal dystrophies (such as Stargardt disease 1, cone-rod dystrophy 3, and retinitis pigmentosa 19) to late-onset age-related macular degeneration 2, has been attributed to loss-of-function variants in the ABCA4 gene. In this study, we aimed to identify and analyze potential pathogenic ABCA4 variants in patients with Stargardt disease or retinitis pigmentosa and to explore the impact of an intronic variant (NM_000350.3:c.6386 + 4A>G) on mRNA splicing.

Methods

We enrolled three patients from unrelated families with Stargardt disease or retinitis pigmentosa after comprehensive ophthalmological evaluations were performed. Whole-exome sequencing and Sanger sequencing were applied for mutation screening, focusing o

SUBMITTER: Luo Q 

PROVIDER: S-EPMC12213749 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature