Table 1. A summary of the functional annotation for RP/LCA driver genes.
| Functional Annotation | Syndromic RP/LCA | Non-syndromic RP/LCA |
|---|---|---|
| Development of retina and or its components | CLRN1 *, GDF6 *, NEUROD1 *, OTX2 | C2ORF71, ZNF408 # , ZNF513 |
| Photoreceptor specific transcription factor | CRX # , NRL, NR2E3 # | |
| Phototransduction | CNGA1, CNGB1, GUCY2D, PDE6A, PDE6B # , PDE6G, PRPH2 # , RHO # , SAG # , | |
| Vitamin A (retinol) metabolism | RDH11 | ABCA4 # , LRAT # , RGR # , RDH12 # , RLBP1 # , RPE65 # |
| Lipid synthesis/modification | INPP5E | CYP4V2 # , DHDDS, MVK |
| Structural or cytoskeletal | BBS1 *, BBS2 *, OFD1 * | EMC1, EYS, FSCN2 # , IMPG2, PROM1 # , ROM1, RP1, TULP1 # |
| Signaling, cell-cell interactions, or synaptic interaction | ABHD12, TUB, USH2A * | CABP4, CRB1 # , GUCA1B # , RP2, SEMA4A # |
| RNA intron-splicing process | DHX38, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, RP9, SNRP200 | |
| Formation/maintenance of ciliated cells | AHI1, ARL6 *, CC2D2A, CEP290 *, IQCB1 *, INVS, NPHP1, NPHP3, NPHP4, SDCCAG8, TTC8 * | FAM161A, LCA5, RPGR # , RP1L1 # |
| Spindle formation | IFT172 * | KIZ, NEK2 |
| Ubiquitin/SUMO pathways | KLHL7, TOPORS | |
| pH regulation | CA4 | |
| Transport | FLVCR1 | AIPL1 # , ARL2BP, RD3 # , RBP3, SLC7A14 |
| Phosphorylation | PANK2, PRPS1 | HK1, MAK |
| Peroxisomal biogenesis/import | HSGNAT *, PEX1, PEX2, PEX7 | |
| Phagocytosis | MERTK # | |
| Orphan receptor | GPR125 | |
| Olfactory receptor | OR2W3 | |
| Other/unknown functions | DTHD1 *, GNPTG, PHYH, TTPA | BEST1 # , C8ORF37 # , CERKL # , IDH3B, IMPDH1 # , KCNJI3 # , KIAA1549, NMNAT1, PRCD # , RPGRIP1 # , SPATA7 # |
* Mutations in this gene can cause both syndromic and non-syndromic forms of RP or LCA
# Mutations in this gene can cause RP as well as other retinal dystrophies