Table 2 Comparison of the three available cohorts from IRDs sequencing in Mexico
From: Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
| Â | Villanueva-Mendoza et al [13] | Zenteno et al [14] | Present study |
|---|---|---|---|
n | 144 (100%) | 143 (100%) | 126 (100%) |
Pre Sequencing diagnosis | Â | Â | Â |
 RP | 47 (32.6%) | 85 (52.4%) | 53 (42.1%) |
 LCA and EORD | 33 (22.9%) | 21 (14.6%) | 3 (2.4%) |
 Other IRDs | 37 (25.7%) | 18 (12.5%) | 40 (31.7%) |
 Syndromic IRDs | 20 (13.9%) | 19 (13.2%) | 30 (23.8%) |
Causative variant detection | 105 (72.9%) | 95 (66%) | 94 (74.6%) |
Variations classification | Â | Â | Â |
 Missense | 52.7% | 49% | 47% |
 Frameshift | 21.3% | 25% | 16% |
 Nonsense | 10.0% | 15% | 14% |
 Splicing | 7.3% | 7% | 11% |
 Others | 8.6% | 4% | 11% |
Most commonly affected gene | ABCA4 19 (18%) | ABCA4 8 (8%) | USH2A 27 (27%) |
Unsolved cases | 22 (15%) | 48 (34%) | 22 (17%) |