Table 4.
Pathways related to retinal dystrophies
| Pathway | Genes causing retinal dystrophy | Phenotypes |
|---|---|---|
| Phototransduction | CNGA1, CNGB1, GUCA1B, RHO, PDE6A, PDE6B, PDE6C, SAG, CNGB3 | adRP, arRP, adMD, dCSNB, Oguchi disease, arCORD |
| Visual cycle | ABCA4, RGR, RLBP1, BEST1, IRBP, RPE65, CA4, RDH12, IDH3B, ELOVL4, PITPNM3, GUCY2D | adRP, arRP, arMD, adMD, arCORD, adCORD, coroid sclerosis, arLCA |
| Phagocytosis of rod outer segments | MERTK | arRP |
| Retinal development | CRX, NRL, NR2E3, SEMA4A, RAX2, PROM1, TSPAN12, TULP1, OTX2 | adRP, arRP, adLCA, arLCA, adCORD, adMD, FEVR |
| Ciliary structure | CEP290, RP1, USH2A, CRB1, RP2, RPGR, RPGRIP1, LCA5, OFD1, MYO7A, USH1C, DFNB31, CDH23, PCDH15, USH1G, GPR98, BBS1-BBS10, TRIM32, BBS12, BBS13, AHI1 | adRP, arRP, xlRP, arLCA, JS, BBS, USH, xlCORD, xlCSNB, MKS, LGMD2H, MKKS |
| Photoreceptor structure | RDS, ROM1, FSC2 | adRP, digenic RP, adMD |
| mRNA splicing | HPRP3, PRPF8, PRPF31, PAP1, TOPORS | adRP |
| Others | ASCC3L1, SPATA7, EYS, KLHL7, RD3, KCNV2, RIMS1, CACNA2D4, ADAM9, CNNM4, TRPM1, CABP4, OFD1 | adRP, arRP, arCOD, arLCA, adCORD, CORD, arCORD, JS |
adCORD: autosomal-dominant cone and rod dystrophy; adLCA: autosomal dominant Leber's congenital amaurosis; adMD: autosomal-dominant macular dystrophy; adRP: autosomal-dominant retinitis pigmentosa; arCORD: autosomal-recessive cone and rod dystrophy; arCOD: autosomal recessive cone dystrophy; arLCA: autosomal-recessive Leber's congenital amaurosis; arMD: autosomal-recessive macular dystrophy; arRP: autosomal-recessive retinitis pigmentosa; BBS: Bardet-Biedl syndrome; CORD: cone and rod dystrophy; dCSNB: dominant congenital stationary night blindness; FEVR: familial exhudative vitreoretinopathy; JS: Joubert syndrome; LGMD2H: limb and griddle muscular dystrophy type 2H; MD: macular degeneration; MKKS, McKusick-Kaufmann syndrome; MKS: Meckel-Gruber syndrome; RdCVF: rod-derived cone viability factor; RP: retinitis pigmentosa; USH: Usher syndrome; xlCORD: X-linked cone and rod dystrophy; xlCSNB: X-linked congenital stationary night blindness; xlRP: X-linked retinitis pigmentosa.