Stargardt/ABCA4 disease in African Americans

This collaborative program, involving five centers, is structured into three specific aims. Aim 1 focuses on patient recruitment and comprehensive clinical analyses. Aim 2 involves identifying and analyzing all variants within the entire ABCA4 locus and exome, defining genotype-phenotype correlations, genetically defined disease subgroups, and the overall structure of ABCA4 variation in African American patients. Aim 3 is dedicated to the functional analyses of the most frequent ABCA4 alleles in African American cases, testing their effects through structural modeling, in vitro assays, mouse models, and iPS-derived retinal organoids. The research seeks to uncover and functionally verify disease-associated variants, advance precise disease diagnosis, refine clinical prognosis, and provide a platform for designing phenotype-specific treatments.