Table 1. RD mutations identified in our cohort.
| ID | Final diagnosis | Gene | Genotype | cDNA change | Protein change | Reference | Analysis |
|---|---|---|---|---|---|---|---|
| Dominant inheritance | |||||||
| ADRP1 | Retinitis pigmentosa | RP1 | Heterozygous | c.2161del | p.G723Efs*15 | [a] | WES |
| ADRP18 | Retinitis pigmentosa | NR2E3 | Heterozygous | c.166G>A | p.G56R | [11] | Panel |
| ADRP32 | Retinitis pigmentosa | PRPF31 | Heterozygous | Deletion exons 4–13 | p.? | [12] | WES |
| ADRP236 | Retinitis pigmentosa | RP1 | Heterozygous | c.2329dup | p.R777Kfs*4 | [a] | Panel |
| ADRP298 | Retinitis pigmentosa | RHO | Heterozygous | c.874G>A | p.A292T | [a] | Panel |
| ADRP308 | Retinitis pigmentosa | RHO | Heterozygous | c.512C>T | p.P171L | [13] | Panel |
| BD121 | Exudative vitreoretinopathy | FZD4 | Heterozygous | c.664A>G | p.W222R | [a] | WES |
| CACD7 | Retinitis pigmentosa | BEST1 | Heterozygous | c.584C>T | p.A195V | [14] | WES |
| MB54 | Macular dystrophy | GUCA1A | Heterozygous | c.526C>T | p.L176F | [a] | WES |
| MDS47 | Macular dystrophy | BEST1 | Heterozygous | c.728C>T | p.A243V | [15] | WES |
| MDS234 | Macular dystrophy | RP1L1 | Heterozygous | c.133C>T | p.R45W | [16] | Panel |
| RCD 70 | Cone-rod dystrophy | CRX | Heterozygous | c.502del | p.E168Sfs*19 | [17] | Panel+WES |
| RCD 82 | Cone-rod dystrophy | PROM1 | Heterozygous | c.1117C>T | p.R373C | [18] | Panel+WES |
| RCD512 | Cone-rod dystrophy | PROM1 | Heterozygous | c.1117C>T | p.R373C | [18] | Panel |
| ZD68 | Optic atrophy and cataract | OPA3 | Heterozygous | c.308G>C | p.R103H | [a] | WES |
| ZD218 | Macular dystrophy | RP1L1 | Heterozygous | c.133C>T | p.R45W | [16] | Panel |
| ZD302 | Macular dystrophy | RP1L1 | Heterozygous | c.133C>T | p.R45W | [16] | Panel |
| ZD367 | Cone dystrophy | CRX | Heterozygous | c.238G>A | p.E80K | [19] | Panel |
| ZD396 | Cone-rod dystrophy | GUCY2D | Heterozygous | c.2513G>A | p.R838H | [20] | Panel |
| Recessive inheritance | |||||||
| ARRP17 | Retinitis pigmentosa | CRB1 | Heterozygous | c.407G>A | p.C136Y | [a] | WES |
| Heterozygous | c.1465G>T | p.E489* | [a] | ||||
| ARRP28 | Retinitis pigmentosa | EYS | Homozygous | Deletion exons 15–22 | p.? | [a] | Panel |
| ARRP50 | Retinitis pigmentosa | EYS | Homozygous | c.5927+1G>T | p.? | [a] | Panel |
| ARRP75 | Retinitis pigmentosa | PDE6B | Homozygous | c.1699C>T | p.Q567* | [21] | Panel |
| ARRP82 | Retinitis pigmentosa | USH2A | Heterozygous | c.9433C>T | p.L3145F | [a] | WES |
| Heterozygous | c.13335_13347del13ins4 | p.E4445_S4449delinsDL | [a] | ||||
| ARRP83 | Retinitis pigmentosa | TULP1 | Homozygous | c.1604T>C | p.F535S | [21] | Panel |
| ARRP138 | Retinitis pigmentosa | CERKL | Homozygous | c.1090C>T | p.R364* | [22] | Panel |
| ARRP142 | Retinitis punctata albescens | RLBP1 | Homozygous | c.398del | p.P133Qfs*126 | [23]§ | Panel |
| ARRP165 | Retinitis pigmentosa | IQCB1 | Homozygous | c.1558C>T | p.Q520* | [a] | Panel |
| ARRP182 | Retinitis pigmentosa | CLN3 | Homozygous | c.1213C>T | p.R405W | [24] | Panel+WES |
| ARRP201 | Retinitis pigmentosa | CYP4V2 | Heterozygous | c.283G>A | p.G95R | [25] | WES |
| Heterozygous | c.1198C>T | p.R400C | [26] | ||||
| ARRP210 | Retinitis pigmentosa | IFT140 | Heterozygous | c.472C>T | p.R158W | [a] | WES |
| Heterozygous | c.1565G>A | p.G522E | [27] | ||||
| ARRP230 | Retinitis pigmentosa | MAK | Homozygous | c.79G>C | p.G27R | [28] | WES |
| ARRP255 | Retinitis pigmentosa | USH2A | Heterozygous | c.2610C>A | p.C870* | [29] | WES |
| Heterozygous | c.12261G>C | p.W4087C | [a] | ||||
| CACD25 | Macular dystrophy | ABCA4 | Heterozygous | c.5196+1137G>A$ | p.? | [8] | WES |
| Heterozygous | c.5311G>A | p.G1771R | [a] | ||||
| CHRO89 | Achromatopsia | CNGB3 | Homozygous | c.1430_1431delinsC | p.K477Tfs*17 | [a] | Panel |
| CHRO234 | Alström syndrome | ALMS1 | Homozygous | c.1043G>A | p.W348* | [a] | WES |
| CHRO249 | Cone-rod dystrophy | RAB28 | Homozygous | c.565G>A | p.Q189* | [30]§ | WES |
| CHRO391 | Bardet Biedl syndrome | BBS5 | Homozygous | c.790G>A | p.G264R | [a] | WES |
| CHRO436 | Achromatopsia | ATF6 | Heterozygous | c.797dup | p.N267* | [31]§ | WES |
| Heterozygous | c.1110dup | p.V371Sfs*3 | [31]§ | ||||
| CHRO865 | Achromatopsia | PDE6C | Heterozygous | c.88_98del | p.V30Gfs*19 | [a] | WES |
| Heterozygous | c.1205T>A | p.V402E | [a] | ||||
| LCA70 | Leber congenital amaurosis and Bardet Biedl syndrome | BBS9 | Homozygous | c.1693+1G>A | p.? | [a] | WES |
| MST177 | Stargardt disease | ABCA4 | Heterozygous | c.2588G>C | p.G863A | [32] | WES |
| Heterozygous | c.3898C>T | p.R1300* | [33] | ||||
| RCD49 | Cone-rod dystrophy | PROM1 | Homozygous | c.2077-521A>G | p.S684Ifs*21 | [7]§ | Panel+WES+WGS |
| RCD69 | Cone-rod dystrophy | CDHR1 | Heterozygous | c.1448A>G | p.E483G | [a] | Panel |
| Heterozygous | c.2522_2528del | p.I841Sfs*119 | [a] | ||||
| RCD117 | Cone-rod dystrophy | CERKL | Heterozygous | c.356C>T | p.G119D | [a] | Panel |
| Heterozygous | c.715G>A | p.R239* | [a] | ||||
| RCD163 | Cone-rod dystrophy | RPGRIP1 | Heterozygous | c.630del | p.H198Tfs*50 | [a] | Panel |
| Heterozygous | c.2796dup | p.E933* | [a] | ||||
| RCD281 | Cone-rod dystrophy | TULP1 | Heterozygous | c.1025G>A | p.R342Q | [34] | Panel |
| Heterozygous | c.1496-6C>A | p.? | [35] | ||||
| RCD285 | Cone-rod dystrophy | PROM1 | Heterozygous | c.1327dup | p.S443Ffs*22 | [a] | Panel+WES |
| Heterozygous | c.1557C>A | p.Y519* | [36] | ||||
| RCD500 | Leber congenital amaurosis | CEP290 | Heterozygous | c.4723A>T | p.K1575* | [37] | Panel |
| Heterozygous | c.5254C>T | p.R1752W | [21] | ||||
| ZD345 | Cone dystrophy | ABCA4 | Heterozygous | c.4139C>T | p.P1380L | [38] | Panel+WES |
| Heterozygous | c.4253+4C>T | p.? | [39] | ||||
| ZD410 | Cone dystrophy | ABCA4 | Heterozygous | c.1622A>G | p.L541P | [40] | Panel |
| Heterozygous | c.1643C>T | p.W548* | [a] | ||||
| X-linked inheritance | |||||||
| ADRP276 | Retinitis pigmentosa | RPGR | Hemizygous | c.1245+1G>T | p.? | [a] | Panel |
| RCD291 | Cone-rod dystrophy | RPGR | Hemizygous | c.3011_3012del | p.E1004Gfs*74 | [a] | WES |
| Simplex cases | |||||||
| LCA89 | Leber congenital amaurosis | CEP290 | Heterozygous | c.3310-1_3310delinsAA | p.? | [a] | WES |
| Heterozygous | c.5825A>C | p.Q1942P | [a] | ||||
§Identified in this study but already published;
$not identified by WES but by subsequent screening for this variant;
a, this study.