Table 2.
Pathogenic Variant Detection Rate by Phenotype
| Phenotype | Total Cases | Cases Solved | Cases Partially Solved | Cases Unsolved |
|---|---|---|---|---|
| RP | 311 | 168 (54%) | 11 (4%) | 132 (42%) |
| RD | 101 | 55 (54%) | 5 (5%) | 41 (41%) |
| CRD | 53 | 29 (55%) | 3 (6%) | 21 (40%) |
| Stargardt | 45 | 27 (60%) | 10 (22%) | 8 (18%) |
| Macular dystrophy | 37 | 18 (49%) | 1 (3%) | 18 (49%) |
| Usher | 37 | 31 (84%) | 2 (5%) | 4 (11%) |
| Other | 27 | 10 (37%) | 0 (0%) | 17 (63%) |
| CSNB | 26 | 23 (88%) | 0 (0%) | 3 (12%) |
| Cone dystrophy | 21 | 6 (29%) | 1 (5%) | 14 (67%) |
| Multiple | 21 | 6 (29%) | 3 (14%) | 12 (57%) |
| LCA | 18 | 16 (89%) | 0 (0%) | 2 (11%) |
| Achromatopsia | 9 | 6 (67%) | 0 (0%) | 3 (33%) |
| Albinism | 8 | 6 (75%) | 0 (0%) | 2 (25%) |
| FEVR | 8 | 3 (38%) | 0 (0%) | 5 (62%) |
| TOTAL | 722 | 404 (56%) | 36 (5%) | 282 (39%) |
Abbreviations: RP, retinitis pigmentosa; RD, retinal dystrophy; CRD, cone-rod dystrophy; other, any phenotype with frequency of less than eight; CSNB, congenital stationary night blindness; multiple, more than one phenotype including syndromic cases; LCA, Leber congenital amaurosis; FEVR, familial exudative vitreoretinopathy.