Figure 1. Pedigrees from a Spanish family cosegregating Stargardt disease and early-onset retinitis pigmentosa. A: Haplotype analysis showing microsatellite markers flanking the ABCA4 gene (TEL-D1S435-D1S2804-ABCA4-D1S236-CEN) confirmed the Stargardt disease phenotype in II:1. His affected sister (II:4) was found to be a carrier of one disease-associated allele. B: Haplotype analysis with markers flanking the CRB1 gene (TEL-D1S1660-CRB1- D1S2757- D1S2816-D1S408-CEN) showed cosegregation of the disease. Three brothers (II:1, II:2, II:3) were found to be carriers of the p.Cys948Tyr allele.