ClinVar

In a 3-generation family manifesting both Stargardt disease (STGD1; 248200) and age-related macular degeneration (ARMD2; 153800), Shroyer et al. (1999) identified heterozygosity for a 4139C-T transition in the ABCA4 gene, resulting in a pro1380-to-leu (P1380L) substitution, in the paternal grandmother with ARMD. The proband and his 2 paternal cousins, who all had Stargardt disease, were compound heterozygous for the P1380L mutation and a 2461T-A transversion in the ABCA4 gene, resulting in a trp821-to-arg (W821R; 601691.0036) substitution, and a 3365G-A transition in the ABCA4 gene, resulting in a glu1122-to-lys (E1122K; 601691.0037) substitution, respectively. Shroyer et al. (1999) suggested that carrier relatives of STGD patients may have an increased risk of developing ARMD.

In a female patient with Stargardt disease, Fingert et al. (2006) identified homozygosity for a pro1380-to-leu mutation in the ABCA4 gene caused by uniparental isodisomy of chromosome 1. Her father was heterozygous for the mutation and the mother was not a carrier.