| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Disease | Hereditary pattern*2 | Symptom | Onset | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| M | 551 | 1 | C | Y184S | 1 | Cone-rod dystrophy | AD | reduced visual acuity and no night blindness | early | Nakazawa (1996) Arch. Ophthalmol. 114, 72. |
| M | 500 | 1 | A | G167D | 1 | Foveal dystrophy | AD | butterfly-shaped pigment | late | Nichols (1993) Nature Genet. 3, 202. |
| M | 629 | 1 | G | P210R | 1 | Foveamacular dystrophy | sporadic | symmetric subfoveal vitelliform lesion | late | Feist (1994) Am. J. Ophthalmol. 118, 259. |
| M | 515 | 1 | A | R172Q | 1 | Macular dystrophy | AD | reduced dark adaptation and central vision | late | Wells (1993) Nature Genet. 3, 213. |
| M | 514 | 1 | T | R172W | 2 | Macular dystrophy | AD | blurred central vision and photophobia | late | Wells (1993) Nature Genet. 3, 213. |
| N | 774 | 1 | A | Y258X | 1 | Vitelliform macular dystrophy | AD | distorted central vision | late | Wells (1993) Nature Genet. 3, 213. |
| N | 136 | 1 | T | R46X | 1 | Retinitis pigmentosa | AD | diffuse severe retinal dysfunction | early | Meins (1993) Hum. Molec. Genet. 2, 2181. |
| M | 518 | 1 | T | D173V | 1 | Retinitis pigmentosa | AD | severe retinal dysfunction | early | Gruning (1994) Hum. Mut. 3, 321. |
| M | 554 | 1 | C | L185P | 1 | Retinitis pigmentosa | AD | reduced rod and cone response | early | Kajiwara (1991) Nature 354, 480. |
| M | 634 | 1 | G | S212G | 1 | Retinitis pigmentosa | AD | reduced rod and cone response | late | Farrar (1992) Genomics 14, 805. |
| M | 647 | 1 | T | P216L | 1 | Retinitis pigmentosa | AD | reduced rod and cone response | ND | Kajiwara (1991) Nature 354, 480. |
| M | 732 | 1 | A | N244K | 1 | Retinitis pigmentosa | AD | night blindness, visual field loss and bull's eye macropathy | early | Kikawa (1994) Genomics 20, 137. |
| M | 730 | 1 | C | N244H | 1 | Retinitis pigmentosa | AD | Cone-rod degeneration | early | Nakazawa (1994) Hum. Molec. Genet. 3, 1195 |
| M | 641 | 1 | C | C214S | 1 | Retinitis pigmentosa | AD | ND | late | Saga, M. (1993) Hum. Genet. 92, 519. |