Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the<i>ABCA4</i>Gene

Abstract

Homozygous G1961E mutation in ABCA4 results in a range of retinal pathology. The phenotype usually is at the milder end of the disease spectrum, with severe phenotypes linked to the presence of additional ABCA4 variants. Our report also highlights that milder, late-onset Stargardt disease may be confused with AMD.