To test the hypothesis that defects in the RAXL1 gene could result in retinal disease, Wang et al. (2004) screened a cohort of 322 patients with CORD, 107 with Leber congenital amaurosis (LCA; see 204000), 92 with age-related ... To test the hypothesis that defects in the RAXL1 gene could result in retinal disease, Wang et al. (2004) screened a cohort of 322 patients with CORD, 107 with Leber congenital amaurosis (LCA; see 204000), 92 with age-related macular degeneration (ARMD; see 603075), 14 with autosomal recessive retinitis pigmentosa (see 268000), 14 with autosomal dominant retinitis pigmentosa, and 94 normal individuals for mutation in the RAXL1 gene. A 78-year-old patient with macular degeneration and electroretinographic evidence of peripheral retinal involvement, which Wang et al. (2004) interpreted as CORD, harbored a missense mutation (601362.0002). In an unrelated CORD patient a 6-bp insertion was found (601362.0003). In coimmunoprecipitation analyses and transient transfection assays, both these mutations resulted in decreased interaction of the protein with CRX (602225) and altered transactivation activity.