Table 2 Summarization of the ocular disease models using ROs
From: Retinal organoids as models for development and diseases
Disease | Genes | Mutations | Year | Notes | References |
|---|---|---|---|---|---|
RP | RPGR | c.1685_1686delAT | 2018 | Gene correct | (Deng et al. 2018) |
c.2234_2235delGA | |||||
c.2403_2404delAG | |||||
RP | USH2A | c.8559-2A > G | 2019 |  | (Guo et al. 2019) |
c.9127_9129delTCC | |||||
RP | RP2 | RP2 NULL | 2020 | AAV gene augmentation | (Lane et al. 2020) |
RP2 R120X | |||||
RP | CRB1 | Y631C; G850S | 2020 | Â | (Zhang et al. 2020b) |
RP | NRL | NRL NULL | 2020 | Â | (Kallman et al. 2020) |
RP | PRPF31 | c.1115_1125del11 | 2018 | Gene correct | (Buskin et al. 2018) |
c.522_527 + 10del | |||||
RP | CRB1 | Homozygous M1041T | 2019 | Â | (Quinn et al. 2019) |
E995X;Y631C | |||||
C948Y;M1041T | |||||
RP | TRNT1 | Glu43del3 GAA;p.Ser418del1Afs | 2017 | Â | (Sharma et al. 2017) |
Ser418Ins1Afs; c.609-26 T > C | |||||
RP | PDE6B | E232K | 2020 | Â | (Gao et al. 2020) |
RP | CLN3 | A59T | 2021 | Gene correct | (Zhang et al. 2021) |
RP | NR2E3 | G56R | 2021 | Â | (Diakatou et al. 2021) |
RP | RP17 | Structural variants | 2020 | Â | (de Bruijn et al. 2020) |
LCA | RPE65 | L67R; Y144H | 2019 | Â | (Li et al. 2019) |
LCA | CEP290 | Homozygous IVS26 + 1655A > G | 2017 |  | (Shimada et al. 2017) |
LCA | AIPL1 | C89R | 2020 | Â | (Lukovic et al. 2020) |
LCA | CRX | I138fs48; K88N | 2021 | AAV-mediated augmentation | (Kruczek et al. 2021) |
Glaucoma | OPTN | E50K | 2020 | Â | (VanderWall et al. 2020) |
Macular telangiectasia type 2 | SPTLC1 | C133Y | 2019 | Â | (Gantner et al. 2019) |
Microphthalmia | VSX2 | Homozygous R200Q | 2020 | Â | (Eintracht et al. 2020) |
Retinoblastoma | MYCNOS | MYCNOS NULL | 2020 | Â | (Saengwimol et al. 2020) |
Retinoblastoma | RB1 | RB1 NULL | 2020 | Â | (Liu et al. 2020) |
Homozygous R320X | |||||
Retinoblastoma | RB1 | RB1 NULL | 2020 | Â | (Deng et al. 2020) |
Stargardt Disease | ABCA4 | c.5196 + 1137G > A | 2020 | Antisense oligonucleotides therapy | (Khan et al. 2020) |
X-linked juvenile retinoschisis | RS1 | C625T | 2019 | Base editing | (Huang et al. 2019) |