Table 3.
Diagnostic yield and causative gene of combined IRD and HI (data presented per family)
| Diagnosis | Genetic testing (N, %) | Gene | N (%) | ||
|---|---|---|---|---|---|
| Solved | Unsolved | Total | |||
| Usher syndrome | 48 (92.3%) | 4 (7.7%) | 52 (100%) | USH2A | 22 (42.3) |
| MYO7A | 12 (23.1) | ||||
| ADGRV1 | 6 (11.5) | ||||
| ARSG | 4 (7.7) | ||||
| USH1G | 1 (1.9) | ||||
| CDH23 | 3 (5.8) | ||||
| Unsolved | 4 (7.7) | ||||
| PHARC | 3 (100%) | 0 (0%) | 3 (100%) | ABHD12 | 3 (100) |
| Cone-rod dystrophy and hearing loss | 2 (50%) | 2 (50%) | 4 (100%) | CEP250 | 2 (50) |
| Unsolved | 2 (50) | ||||
| Alport syndrome | 3 (100%) | 0 (0%) | 3 (100%) | COL4A5 | 2 (75) |
| COL4A4 | 1 (25) | ||||
| Heimler syndrome | 1 (100%) | 0 (0%) | 1 (100%) | PEX1 | 2 (100) |
| Waardenburg syndrome | 1 (100%) | 0 (0%) | 1 (100%) | MITF | 1 (100) |
| Senior-Loken | 1 (100%) | 0 (0%) | 1 (100%) | SDCCAG8 | 1 (100) |
| ADOA plus | 2 (100%) | 0 (0%) | 2 (100%) | OPA1 | 2 (100) |
| MELAS | 2 (100%) | 0 (0%) | 2 (100%) | MT-TL1 | 2 (100) |
| MIDD | 1 (100%) | 0 (0%) | 1 (100%) | MT-TL1 | 1 (100) |
| Stickler syndrome | 1 (100%) | 0 (0%) | 1 (100%) | COL11A1 | 1 (100) |
| TOTAL | 65 (91.6%) | 6 (8.5%) | 71 (100%) | 71 (100) | |
ADOA plus Autosomal dominant optic atrophy plus, MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episode, PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome, MIDD Maternally inherited diabetes and deafness