Table 1.
Human iPSC-derived retinal organoid models of retinal ciliopathies.
| Associated Disorder | Gene | Mutation | Reference |
|---|---|---|---|
| X-linked retinitis pigmentosa | RPGR | c.ORF15+689−692del4 | [45] |
| X-linked retinitis pigmentosa | RPGR | c.1685_1686delAT c.2234_2235delGA c.2403_2404delAG |
[23] |
| X-linked retinitis pigmentosa | RPGR | c.ORF15+652_653delAG c.ORF15+594_595delGA |
[22] |
| X-linked retinitis pigmentosa | RPGR | c.1415 − 9A>G | [25] |
| X-linked retinitis pigmentosa | RP2 | c.358C>T c.371_378delAAGCTGGA |
[43] |
| Retinitis pigmentosa | PRPF31 | c.1115_1125del | [46] |
| Leber congenital amaurosis | CEP290 | c.2991+1665A>G + c.2991+1665A>G | [18] |
| Leber congenital amaurosis | CEP290 | c.2991+1665A>G + c.2991+1665A>G c.2991+1655A>G + c.5668G>T |
[47,48] |
| Leber congenital amaurosis | CEP290 | c.2991+1665A>G + c.2991+1665A>G | [49] |
| Leber congenital amaurosis | CEP290 | c.2991+1665A>G + c.2991+1665A>G c.315del + c.316del |
[50] |
| Leber congenital amaurosis | LCA5 | c.835C>T + c.835C>T | [51] |
| Leber congenital amaurosis | NPHP5 | c.421_422delTT + c.1036G>T | [24] |
| Non-syndromic retinitis pigmentosa | USH2A | c.8559-2A>G + c.9127_9129del | [52,53] |
| Non-syndromic retinitis pigmentosa/Usher syndrome (Type 2) | USH2A | c.2299delG + c.2276G>T c.2299delG + c.2299delG |
[54] |
| Usher syndrome (Type 1) | USH1B | c.6070C>T + c.223G>C c.1996C>T + c.133-2A>G |
[55] |