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Table 4 Pathways related to retinal dystrophies

From: Retinitis pigmentosa and allied conditions today: a paradigm of translational research

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
  1. 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.