Table 1.
Screening studies of inherited retinal disease (IRD) populations. CRD = cone–rod dystrophy; LCA = Lebers congenital amaurosis; IRD = inherited retinal dystrophy; MD = macular dystrophy; RP = retinitis pigmentosa; TC = target capture; WES = whole-exome sequencing; WGS = whole-genome sequencing.
| Country | Author | Year | Pedigrees | Solve Rate | Cohort Details | TC (Genes) | WES | WGS |
|---|---|---|---|---|---|---|---|---|
| Australia | Thompson [46] | 2017 | 34 | 90 | LCA | Yes | - | - |
| Brazil | Motta [47] | 2018 | 559 | 72 | IRD | Yes | Yes | - |
| China | Liu [48] | 2020 | 800 | 60 | RP | Yes | Yes | - |
| China | Gao [49] | 2019 | 1243 | 72 | RP | 586 | - | - |
| China | Liu [50] | 2020 | 182 | 48 | IRD | Yes | Yes | - |
| China (Han) | Huang [51] | 2017 | 98 | 41 | RP | - | Yes | - |
| China | Dan [52] | 2020 | 76 | 57 | IRD | Yes | Yes | - |
| China | Wang [53] | 2018 | 319 | 39 | IRD | Yes | Yes | - |
| Finland | Avela [54] | 2019 | 53 | 77 | IRD | Yes | - | - |
| Germany | Weisschuh [55] | 2020 | 1785 | 69 | IRD | Yes | - | - |
| Germany | Birtel [56] | 2018 | 251 | 74 | MD/CRD | Yes | - | - |
| Iran | Tayebi [57] | 2019 | 50 | 72 | IRD | Yes | - | - |
| Ireland | Whelan [58] | 2020 | 710 | 70 | IRD | Yes | - | - |
| Israel | Sharon [59] | 2020 | 2420 | 56 | IRD | Yes | Yes | Yes |
| Japan | Koyanagi [60] | 2019 | 1204 | 30 | RP | Yes | - | - |
| Japan | Numa [36] | 2020 | 220 | 45 | RP | Yes | - | Yes |
| Korea | Surl [61] | 2020 | 50 | 78 | LCA | Yes | Yes | - |
| Korea | Kim [62] | 2019 | 86 | 44 | IRD | Yes | - | - |
| Mexico | Zenteno [63] | 2019 | 143 | 66 | IRD | Yes | - | - |
| Norway | Holtan [17] | 2020 | 650 | 32 | IRD | Yes | - | - |
| Poland | Wawrocka [64] | 2018 | 18 | 39 | CRD | Yes | Yes | - |
| Polynesian and Māori | Vincent [35] | 2017 | 16 | 44 | IRD | Yes | - | - |
| Spain | Perea-Romero [41] | 2021 | 3951 | 53 | IRD | Yes | Yes | Yes |
| Spain | Martin-Merida [65] | 2019 | 877 | 38 | RP | Yes | - | - |
| Spain | Gonzàlez-Duarte [66] | 2019 | 73 | 85 | IRD | Yes | - | - |
| Spain | Diñeiro [67] | 2020 | 100 | 45 | IRD | Yes | - | - |
| Taiwan | Chen [68] | 2020 | 60 | 53 | IRD | Yes | - | - |
| Tunisia | Habibi [69] | 2020 | 73 | 68 | IRD | - | Yes | - |
| UAE | Khan [70] | 2020 | 71 | 100 | Pediatric IRD | Yes | Yes | - |
| UAE | Patel [71] | 2018 | 75 | 82 | IRD | Yes | Yes | - |
| UK | Jiman [72] | 2020 | 106 | 49 | Syndromic IRD | Yes | - | - |
| UK | Shah [73] | 2020 | 655 | 43 | IRD | Yes | - | - |
| UK | Carss [74] | 2017 | 722 | 56 | IRD | - | Yes | Yes |
| UK | Lenassi [75] | 2020 | 201 | 64 | Pediatric IRD | Yes | - | - |
| UK | Patel [76] | 2019 | 277 | 25 | Pediatric IRD | Yes | - | - |
| UK | Taylor [77] | 2017 | 85 | 79 | Pediatric IRD | Yes | - | - |
| USA and Canada | Goetz [78] | 2020 | 5385 | 62 | IRD | Yes | - | - |
| USA | Stone [79] | 2017 | 1000 | 76 | IRD | - | Yes | - |
| USA | Bryant [80] | 2018 | 69 | 64 | IRD | - | Yes | - |