Table 1. RPE65 mutations in Leber congenital amaurosis patients.
| Patient | Age, y | Gender | Mutations | Source* |
|---|---|---|---|---|
| P1 | 11 | Male | Y368H/Y368H | 17 |
| P2 | 12 | Female | 97del20bp/97del20bp | 5, 17, 35, 48 |
| P3 | 18 | Female | L341S/L341S | This study |
| P4 | 19 | Female | R44Q/R91W | 48 |
| P5 | 20 | Female | L343X | This study |
| P6 | 21 | Male | E417Q/E417Q | 48 |
| P7 | 27 | Female | H182R/H182R | This study |
| P8 | 28 | Female | Y368H/297del1bp | This study |
| P9 | 40 | Female | K303X/Y431C | 49 |
| P10 | 41 | Male | Y144D/Y144D | 48 |
| P11 | 53 | Male | IVS1 + 5G>A, homoallelic | 35,48,50 |
*
Previous report of genotype and/or phenotype.