Article
Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.
Investigative ophthalmology & visual science - 2 Feb 2026
Pas Jeroen A A H, Künzel Sandrine H, Ansari Georg, Pfau Kristina, Chang Petrus, Herrmann Philipp, Holz Frank G, Hoyng Carel B, Pfau Maximilian
Abstract excerpt
Purpose: To quantitatively investigate disease progression and genotype-phenotype correlations in Stargardt disease patients harboring the common ABCA4 variant c.5882G>A p.(Gly1961Glu), aiming to evaluate the contribution of second ABCA4 variants to disease severity. Methods: This multicenter study included 77 Stargardt disease patients uniformly carrying the ABCA4 c.5882G>A p.(Gly1961Glu) variant from Nijmegen,...
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