NIH R01 · 2025
Stargardt/ABCA4 disease in African Americans
Project summary/Abstract Disease-associated variation in the ABCA4 gene has emerged as the most prevalent cause of Mendelian retinal disease affecting an estimated 50,000 people in the United States. The extensive clinical heterogeneity of ABCA4-associated retinopathy, in short ABCA4-RD, which includes >40 clinical phenotypes entities (most often called Stargardt disease (STGD1), cone-rod dystrophy (CRD), retinitis pigmentosa (RP)-like, etc.), reflects its equally large genotypic profile with >2300 known disease-associated variants. While the clinical and genetic spectrum of patients of European descent has been advanced significantly since the discovery of the ABCA4 gene in 1997, the same…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.