Table 5.
Genes and proteins leading to retinal dystrophies involved in phototransduction, visual cycle and phagocytosis of rod outer segments
| Gene | Location | Protein | Function | % | Type of RP |
|---|---|---|---|---|---|
| CNGA1 | 4p12 | rod cGMP-gated channel alpha subunit | Phototransduction | 2.2 | arRP |
| CNGB1 | 16q13 | rod cGMP-gated channel beta subunit | Phototransduction | arRP | |
| GUCA1B | 6p21.1 | guanylate cyclase activating protein 1B | Phototransduction | adRP, adMD | |
| RHO | 3q22.1 | rhodopsin | Phototransduction | 19-25 | adRP, arRP, dCSNB |
| PDE6A | 5q33.1 | cGMP phosphodiesterase alpha subunit | Phototransduction | 4 | arRP |
| PDE6B | 4q16.3 | cGMP phosphodiesterase beta subunit | Phototransduction | 4 | arRP, dCSNB |
| PDE6C | 10q23.33 | cone alpha subunit of cGMP phosphodiesterase | Phototransduction | arCOD | |
| SAG | 2q37.1 | arrestin | Phototransduction | arRP, Oguchi disease | |
| CNGB3 | 8q21.3 | cone cyclic nucleotide-gated cation channel beta 3 subunit | Phototransduction | arCOD | |
| ABCA4 | 1p22.1 | ATP-binding cassette transporter - retinal | Visual cycle | 2,9 | arRP, arMD, arCORD |
| RGR | 10q23.1 | RPE-retinal G protein-coupled receptor | Visual cycle | 0,5 | arRP, coroid sclerosis |
| RLBP1 | 15q26.1 | retinaldehyde-binding protein 1 | Visual cycle | arRP | |
| BEST1 | 11q12.3 | Bestrophin-1 | Visual cycle | adMD (Best type) | |
| IRBP | Visual cycle | arRP | |||
| RPE65 | 1p31.2 | retinal pigment epithelium-specific 65 kDa protein | Visual cycle | 2 | arRP, arLCA |
| CA4 | 17q23.2 | carbonic anhydrase IV | Visual cycle | adRP | |
| RDH12 | 14q24.1 | retinal dehydrogenase 12 | Visual cycle | 4 | arRP |
| IDH3B | 20p13 | NAD(+)-specific isocitrate dehydrogenase 3 beta | Visual cycle | arRP | |
| ELOVL4 | 6q14.1 | elongation of very long fatty acids protein | Visual cycle | adMD | |
| PITPNM3 | 17p13.2 | phosphatidylinositol transfer membrane-associated family member 3 | Visual cycle | adCORD | |
| LRAT | 4q32.1 | lecithin retinol acyltransferase | Visual cycle | 0,7 | arRP, arLCA |
| GUCY2D | 17p13.22 | retinal-specific guanylate cyclase 2D | visual cycle | 21 | arLCA, adCORD |
| MERTK | 2q13 | c-mer protooncogene receptor tyrosine kinase | Phagocytosis of ROS | 0,6 | arRP |
adCORD: autosomal-dominant cone and rod dystrophy; adMD: autosomal-dominant macular dystrophy; adRP: autosomal-dominant retinitis pigmentosa; arCORD: autosomal-recessive cone and rod dystrophy; arCOD: autosonal recessive cone dystrophy; arLCA: autosomal-recessive Leber's congenital amaurosis; arMD: autosomal-recessive macular dystrophy; arRP: autosomal-recessive retinitis pigmentosa; ROS: reactive oxygen species.