Figure 1. Estimated proportions of patients with Leber congenital amaurosis caused by the 11 identified Leber congenital amaurosis genes

This figure uses overall frequencies from Table 3. Eleven identified genes are responsible for approximately 75% of Leber congenital amaurosis cases; the gene(s) responsible for the remaining 25% of cases remain(s) unknown. CEP290 is responsible for the greatest number of cases (21%). The proportion of cases caused by LCAT mutations has been arbitrarily set at 1% (see Discussion).