Characteristics of cloned genes implicated in recessive Leber’s congenital amaurosis according to published reports
| Gene | Chromosome location | Described in | Found in (%) of patients | Reference* | Primer reference† |
|---|---|---|---|---|---|
| *References first describing the cloning of the respective genes. | |||||
| †References describing the primers we used. | |||||
| ARRP, autosomal recessive RP, IRP, isolated RP, LCA, Leber’s congenital amaurosis. | |||||
| AIPL1 | 17p13.2 | LCA | 5–10 | 13 | This study |
| CRB1 | 1q31.3 | LCA, ARRP | 9–13 | 14 | 14 |
| CRX | 19q13.32 | LCA | 1–3 | 15 | |
| GUCY2D | 17p13.1 | LCA, ARRP | 10–20 | 16 | 16 |
| RDH12 | 14q24.1 | LCA, ARRP | 4 | 17 | |
| RPE65 | 1q31.2 | LCA, ARRP | 6–16 | 18 | 4 |
| RPGRIP1 | 14q11.2 | LCA | 4–6 | 19 | 31 |
| TULP1 | 6p21.31 | LCA,ARRP | Several families | 20, 21 | |