Overview of the genes associated with LCA/EOSRD, the encoded proteins, their proposed function(s) and estimated frequency
| Locus name | Causative gene | Protein | Protein function(s) | Approximate frequency |
| LCA 1 | GUCY2D∗ | Guanylate cyclase-1 | Phototransduction | 10%–20% |
| LCA 2 | RPE65† | Retinoid isomerase | Retinoid cycle | 5%–10% |
| LCA 3 | SPATA7 | Spermatogenesis-associated protein 7 | Photoreceptor ciliary transport | 3% |
| LCA 4 | AIPL1∗ | Aryl-hydrocarbon-interacting-protein-like 1 | Phototransduction/protein biosynthesis | <5% |
| LCA 5 | LCA5 | Libercilin | Photoreceptor ciliary transport | 1%–2% |
| LCA 6 | RPGRIP1 | Retinitis pigmentosa GTPase regulator-interacting protein 1 | Photoreceptor ciliary transport | 5% |
| LCA 7 | CRX | Cone–rod homeobox | Photoreceptor morphogenesis | 1% |
| LCA 8 | CRB1∗ | Crumbs homologue 1 | Photoreceptor morphogenesis | 10% |
| LCA 9 | NMNAT1∗ | Nicotinamide nucleotide adenyltransferase1 | Coenzyme NAD biosynthesis | Unknown |
| LCA 10 | CEP290 | Centrosomal protein 290 kDA | Photoreceptor ciliary transport | 15%–20% |
| LCA 11 | IMPDH1 | Inosine 5’—monophosphate dehydrogenase 1 | Guanine synthesis | 5% |
| LCA 12 | RD3 | Protein RD3 | Protein trafficking | <1% |
| LCA 13 | RDH12† | Retinol dehydrogenase 12 | Retinoid cycle | 10% |
| LCA 14 | LRAT† | Lecithin:retinol acyl transferase | Retinoid cycle | <1% |
| LCA 15 | TULP1 | Tubby-like protein | Photoreceptor ciliary transport | <1% |
| LCA 16 | KCNJ13 | Kir7 inwardly rectifying potassium channel | Phototransduction | Unknown |
| LCA 17 | GDF6 | Growth differentiation factor 6 | Photoreceptor morphogenesis | Unknown |
| OTX2 | Orthodenticle homeobox 2 protein | Photoreceptor differentiation | Unknown | |
| CABP4 | Calcium-binding protein 4 | Phototransduction | Unknown | |
| CLUAP1 | Clusterin associated protein 1 | Photoreceptor ciliary transport | Unknown | |
| IQCB1 | IQ motif containing B1 protein | Photoreceptor ciliary transport | Unknown | |
| DTHD1 | Death-domain containing protein 1 | Unknown | Unknown | |
| IFT140 | Intraflagellar transport 140 chlamydomonas homologue protein | Photoreceptor ciliary transport | Unknown | |
| ALMS1 | ALMS Protein | Photoreceptor ciliary transport | Unknown | |
| PRPH2 | Perpherin | Photoreceptor outer segment structure/stabilisation | Unknown |
*Genes associated with EOSRD.
†Genes more frequently associated with LCA.
Other genes have shown no clear predilection.
EOSRD, early-onset severe retinal dystrophy; LCA, Leber congenital amaurosis.