In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years.
The Children's Vision Center, Montreal Children's Hospital and Research Institute, McGill University, Montreal, PQ, Canada. robert.koenekoop@muhc.mcgill.ca
