摘要
Abstract
ABCA4-associated retinopathy is a monogenic inherited retinal disease caused by mutations in the ABCA4 gene.It primarily affects the retinal pigment epithelium and photoreceptors,leading to retinal dysfunction and progressive vision loss.The ABCA4 gene encodes the photoreceptor-specific Rim protein,which plays a crucial role in the metabolism of photoreceptor outer segment disc membranes.Pathogenic ABCA4 variants impair this protein's function,triggering various forms of retinal degeneration.Despite decades of research,comprehensive classification and pathogenic assessment of ABCA4 variants remain incomplete.The gene exhibits high allelic diversity,and its clinical impact is shaped by genetic heterogeneity,allelic variability,genotype-phenotype correlations,and ongoing challenges in variant interpretation.Collectively,these factors underlie the broad spectrum of disease severity.Common phenotypes include Stargardt disease,cone-rod dystrophy,and retinitis pigmentosa.Although these conditions differ in inheritance patterns,genetic loci,and clinical manifestations,these conditions share a common pathophysiology involving photoreceptor dysfunction and cell death,ultimately resulting in varying degrees of vision loss.Currently,there is no complete cure or effective treatment for these conditions.Gene therapy and stem cell therapy are the primary investigational approaches,while drug therapies have not demonstrated significant efficacy in short-term interventions.This review explores the structure and function of the ABCA4 gene,its genetic characteristics,the clinical features of associated retinal diseases,and primary treatment approaches,with the aim of enhancing understanding of ABCA4-associated retinopathy.关键词
ABCA4基因/遗传性视网膜疾病/基因型-表型相关性/基因治疗/Stargardt病Key words
ABCA4 gene/inherited retinal diseases/genotype-phenotype correlation/gene therapy/Stargardt disease分类
医药卫生
