Table 1.
Main genes associated with the onset of LCA.
| Gene | Protein | Function | Molecular weight (kDa) | Reference |
|---|---|---|---|---|
| IMPDH1 | Inosine 5′-monophosphate dehydrogenase 1 | Guanine synthesis | ~55 | (5) |
| CRX | Cone–rod homeobox | Photoreceptor morphogenesis | ~32 | (6) |
| CRB1 | Crumbs homolog 1 | Photoreceptor morphogenesis | ~154 | (7) |
| GDF6 | Growth differentiation factor 6 | Photoreceptor morphogenesis | ~14 | (8) |
| SPATA7 | Spermatogenesis-associated protein 7 | Photoreceptor ciliary transport | ~68 | (9) |
| LCA5 | Libercilin | Photoreceptor ciliary transport | ~80 | (10) |
| RPGRIP1 | Retinitis pigmentosa GTPase regulator-interacting protein 1 | Photoreceptor ciliary transport | ~147 | (11) |
| CEP290 | Tubby-like protein | Photoreceptor ciliary transport | ~290 | (12) |
| TULP1 | Tubby-like protein | Photoreceptor ciliary transport | ~70 | (13) |
| CLUAP1 | Clusterin associated protein 1 | Photoreceptor ciliary transport | ~48 | (14) |
| IQCB1 | Intraflagellar transport 140 chlamydomonas homolog protein | Photoreceptor ciliary transport | ~69 | (15) |
| IFT140 | Intraflagellar transport 140 chlamydomonas homolog protein | Photoreceptor ciliary transport | ~165 | (16) |
| ALMS1 | ALMS Protein | Photoreceptor ciliary transport | ~460 | (17) |
| GUCY2D | Guanylate cyclase-1 | Phototransduction | ~120 | (18) |
| AIPL1 | Aryl-hydrocarbon-interacting-protein-like 1 | Phototransduction/protein biosynthesis | ~43 | (19) |
| RD3 | Protein RD3 | Protein trafficking | ~70 | (20) |
| RPE65 | Retinoid isomerase | Retinoid cycle | ~65 | (21) |
| RDH12 | Retinol dehydrogenase 12 | Retinoid cycle | ~38 | (22) |
| LRAT | Lecithin:retinol acyl transferase | Retinoid cycle | ~25 | (23) |