Table 1.
Genes and mapped loci causing retinal diseases
The data were accessed at https://sph.uth.edu/retnet/disease.htm on March 28, 2018. Please note that the JBC is not responsible for the long-term archiving and maintenance of this site or any other third party hosted site.
| Chromosome | Mutations | Example of a disease with the mutated protein and gene mutation ID |
|---|---|---|
| 1 | 28 | Recessive Leber's congenital amaurosis; RPE65; candidate gene for LCA |
| 2 | 22 | Recessive retinitis pigmentosa; zinc finger protein; linkage mapping |
| 3 | 17 | Dominant retinitis pigmentosa; rhodopsin; linkage mapping |
| 4 | 21 | Recessive retinitis pigmentosa; LRAT; candidate gene |
| 5 | 9 | Dominant Wagner disease; versican; linkage mapping |
| 6 | 20 | Age-related macular degeneration; complement component 2; association study |
| 7 | 9 | Dominant tritanopia; blue cone opsin; candidate gene |
| 8 | 12 | Recessive Jobert syndrome; centrosome--spindle pole protein; whole-exome sequencing |
| 9 | 11 | Age-related macular degeneration; Toll-like receptor 4; link mapping; association study |
| 10 | 22 | Recessive retinitis pigmentosa; IRBP; homozygosity mapping; candidate gene |
| 11 | 19 | Recessive Usher syndrome; myosin VIIA; linkage mapping |
| 12 | 13 | Recessive fundus albipunctatus; RDH5; candidate gene |
| 13 | 5 | Somatic retinoblastoma; RB1; deletion mapping; candidate gene |
| 14 | 13 | Recessive Leber's congenital amaurosis; RDH 12; homozygosity mapping; linkage mapping |
| 15 | 9 | Recessive Usher syndrome; calcium- and integrin-binding protein; linkage mapping |
| 16 | 16 | Recessive Leber's congenital amaurosis; clusterin-associated protein 1; whole exome sequence |
| 17 | 16 | Dominant retinitis pigmentosa; carbonic anhydrase IV; linkage mapping |
| 18 | 3 | Recessive retinal dystrophy; α1-laminin; homozygosity mapping |
| 19 | 10 | Age-related macular degeneration; complement component 3; association study |
| 20 | 8 | Recessive retinitis pigmentosa; Kizuna centrosomal protein; whole-exome sequencing |
| 21 | 2 | Recessive cone-red dystrophy; chromosome 21 open reading frame 2; homozygosity Ma |
| 22 | 5 | Dominant Sorsby's fundus dystrophy; tissue inhibitor of MP3; linkage mapping |
| X | 24 | Protanopia; red cone opsin; candidate gene |
| Mitochondria | 7 | Leber's hereditary optic neuropathy; complex I, II or V; sequencing |
| Total | 321 |