Figure 1 of Xu, Mol Vis 2012; 18:744-750.


Figure 1. Sequence analysis of the RPE65 gene missense mutation Leu67Arg (c.200T>G) and Tyr368Cys (c.1103A>G) in a family with two affected patients. A: A Chinese family with Leber congenital amaurosis (LCA) harbors mutations in the retinal pigment epithelium-specific protein 65 kDa (RPE65) gene. Squares indicate men; circles, women; black symbols, affected individuals; and the arrow indicates the proband. B: The figure shows sequencing results of the mutations in this family.