Table 3. Distribution of involved genes in our RD cohort.
| Clinical diagnosis | Solved cases/total number of cases | Mutated genes (number of cases) |
|---|---|---|
| ar Retinitis pigmentosa | 13/14 | CERKL (1), CLN3 (1), CRB1 (1), CYP4V2 (1), EYS (2), IFT140 (1), IQCB1 (1), MAK (1), PDE6B (1), TULP1 (1), USH2A (2) |
| ad Retinitis pigmentosa | 7/19 | BEST1 (1), NR2E3 (1), PRPF31 (1), RHO (2), RP1 (2) |
| X-linked Retinitis pigmentosa | 1/1 | RPGR (1) |
| ar Cone-rod dystrophy | 7/16 | CERKL (1), CDHR1 (1), PROM1 (2), RAB28 (1), RPGRIP1 (1), TULP1 (1) |
| ad Cone-rod dystrophy | 4/5 | CRX (1), GUCY2D (1), PROM1 (2) |
| X-linked Cone-rod dystrophy | 1/1 | RPGR (1) |
| ar Cone dystrophy | 2/6 | ABCA4 (2) |
| ad Cone dystrophy | 1/2 | CRX (1) |
| ar Macular dystrophy | 1/2 | ABCA4 (1) |
| ad Macular dystrophy | 5/6 | BEST1 (1), GUCA1A (1), RP1L1 (3) |
| Leber congenital amaurosis | 2/3 | CEP290 (2) |
| Achromatopsia | 3/3 | ATF6 (1), CNGB3 (1), PDE6C (1) |
| Stargardt disease | 1/1 | ABCA4 (1) |
| Alström syndrome | 1/1 | ALMS1 (1) |
| Bardet Biedl syndrome | 2/2 | BBS5 (1), BBS9 (1)* |
| Optic atrophy and cataract | 1/1 | OPA3 (1) |
| Exudative vitreoretinopathy | 1/1 | FZD4 (1) |
| Retinitis punctata albescens | 1/1 | RLBP1 (1) |
| Oligocone trichromacy | 0/2 | - |
| ad Vitreoretinochoroidopathy | 0/1 | - |
| Gyrate atrophy-like choroidal atrophy | 0/1 | - |
ar, autosomal recessive; ad, autosomal dominant;
*both Bardet Biedl syndrome and Leber congenital amaurosis are diagnosed in family LCA70.