Table 5.
Percentage of genetically resolved cases and associated genes from this paediatric IRD cohort within each clinical diagnosis category.
| Diagnosis | N = | Genetically Solved % | Associated Gene |
|---|---|---|---|
| AS | 1/1 | 100% | ALMS1 |
| BVMD | 3/3 | 100% | BEST1 |
| CD | 12/17 | 70.6% | CNGB3 (n = 6), CNGA3 (n = 3), PDE6H (n = 1), KCNV2 (n = 1) |
| CSNB | 8/9 | 88.9% | NYX (n = 4), TRPM1 (n = 3), CACNA1F (n = 1) |
| LCA | 9/10 | 90% | RPE65 (n = 2), CEP290 (n = 2), AIPL1 (n = 2), RDH12 (n = 1), CRX (n = 1), CRB1 (n = 1) |
| RCD | 15/18 | 83.3% | XL: RPGR (n = 5), RP2 (n = 1) AD: PRPF31 (n = 2), RHO (n = 1), PRPF8 (n = 1), AR: CNGB1 (n = 1), RLBP1 (n = 1), IMPDH1 (n = 1), MYO7A (n = 1), BBS1 (n = 1) |
| STGD | 5/5 | 100% | ABCA4 |
| XLRS | 7/7 | 100% | RS1 |
AD−autosomal dominant. AR−autosomal recessive. AS−Alström syndrome. BVMD−Best vitelliform macular dystrophy. CD−cone dystrophy. CSNB—congenital stationary night blindness. LCA−Leber congenital amaurosis. RCD−rod cone dystrophy. RRD−rhegmatogenous retinal detachment. STGD−Stargardt disease. XLRS−X-linked retinoschisis. XL−X-linked.