The ABCA4 c.5882G>A p.(Gly1961Glu) variant is associated with substantial interpatient variability in disease severity, heavily influenced by the nature of the second ABCA4 allele. These findings highlight the importance of precise genotypic characterization in prognostic counseling, clinical trial stratification, and the design of targeted gene therapies.
Pas et al. (Thu,) studied this question.