RP1L1 and Stargardt disease: Family 93RE whose clinical diagnosis was compatible with either CRD or recessive Stargardt disease showed cosegregation with GNAT2, ZNF513, OPA1, RP1L1 and ABCA4. Based on the type of inheritance and phenotype, we prioritized the analysis of GNAT2, ZNF513 and ABCA4. Two unreported mutations in ABCA4 were identified, the nonsense c.3988G>T p.E1330X and the missense c.6410G>A p.C2137Y variants.