Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the <i>CRB1</i> and <i>CEP290</i> Genes

Genetic subtypes identified are among the most common ones in LCA; the phenotypes are consistent with those reported previously. Both novel mutations are predicted to result in a premature translation termination. The phenotype related to the novel CRB1 mutation results in severe atrophic maculopathy.