Retinal phenotypic characterization of patients with <i>ABCA4</i> retinopathydue to the homozygous p.Ala1773Val mutation.

Abstract

The results indicate that this particular mutation in <i>ABCA4</i> is associated with a severe retinal phenotype and thus, could be classified as null. Careful phenotyping of patients carrying specific mutations in <i>ABCA4</i> is essential to enhance our understanding of disease expression linked to particular mutations and the resulting genotype-phenotype correlations.