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

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.

ISSN: 1756-994X