Table 3 of
Shen, Mol Vis 2022; 28:96-113. Table 3 of
Shen, Mol Vis 2022; 28:96-113.
Table 3. Large cohorts of previous studies in Chinese IRDs.
| Year | Author | Targeted Diseases | Sequencing Techniques | No. of Patients | Diagnosis Rate | Most Frequent Genes |
|---|---|---|---|---|---|---|
| 2014 | Xu Y and et al. [41] | RP | WES | 157 | 79/157 (50%) | USH2A, RHO, RPGR, SNRNP200, PDE6B, RP2 |
| 2014 | Huang XF and et al. [42] | RDs | Panel-based NGS | 179 | 99/179 (55.3%) | USH2A, EYS, CRB1, PDE6B, ABCA4, CYP4V2 |
| 2017 | Huang L and et al. [43] | RP | WES | 98 | 40/98 (41%) | USH2A, RP1, RPGR, PRPF31, ABCA4 |
| 2019 | Wu JH and et al. [40] | RP | Panel-based NGS | 1243 | 896/1243 (72.8%) | USH2A, CYP4V2, EYS, RPGR, RHO, RP1 |