According to a study led by Beau Fenner, MD, and colleagues, ABCA4-associated retinal disease varies widely in severity and onset. Ophthalmology published the study findings online. Dr Fenner’s team examined the distribution of genotypes and natural progression of ABCA4-associated retinal disease in a large cohort at a single institution. Data from 460 patients revealed diverse clinical manifestations, ranging from early-onset severe photoreceptor disease to late-onset pattern dystrophy. The median age of first vision loss was 16 years, with considerable variability due to modifying factors. According to the findings, 68% of unique genotypes predominated, with 67% of alleles found only once. Shared genotypes exhibited modifying effects, sometimes delaying vision loss by over 15 years. These findings suggest that clinical presentation may be more predictive of disease course than genotype alone. The study underscored the complexity of ABCA4-associated retinal disease and highlighted the importance of modifying factors in clinical management.
