Photo Credit: Jacob Wackerhausen

Studies of hereditary eye diseases specifically in Black patients—including Stargardt disease and retinitis pigmentosa—are limited, and more research is needed to increase “the pool of genomic data” on these diseases, according to findings published in Translational Vision Science & Technology. Wadih Zein, MD, and colleagues conducted a literature search for studies across nine hereditary eye disease categories published from January 1990 through July 2021. During that period, 46 studies specifically reported on the characterization of hereditary eye diseases in Black patients. The studies provided results with implications for diagnosis and treatment, including the identification of potentially pathogenic molecular markers, reclassification of proposed markers as benign, more phenotypic variation, and the identification of disease-causing genetic variants with therapeutic potential. Based on the lack of studies, Dr. Zein and colleagues called more research in this area “a scientific imperative” as well as “a needed step in the pursuit of the best possible patient care for populations of all ancestries.”