| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Hereditary pattern*2 | Symptom | Onset | Reference |
|---|---|---|---|---|---|---|---|---|---|
| M | 875 | 1 | A | A292E | 1*3 | AD | night blindness | congenital | Dryja (1993) Nature Genet. 4, 280. |
| M | 11 | 1 | A | T4K | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 44 | 1 | G | N15S | 4 | AD | sectorial and mild visual field loss | ND | Kranich (1993) Hum. Molec. Genet. 2, 813. |
| M | 50 | 1 | T | T17M | 1 | AD | ND | ND | Sheffield (1991) Am. J. Hum. Genet. 49, 699. |
| M | 50 | 1 | T | T17M | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 50 | 1 | T | T17M | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 68 | 1 | A | P23H | 17 | AD | reduced rod response | early | Dryja (1990) Nature 343, 364. |
| M | 68 | 1 | A | P23H | 4 | AD | ND | ND | Sheffield (1991) Am. J. Hum. Genet. 49, 699. |
| M | 68 | 1 | T | P23L | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 84 | 1 | T | Q28H | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 119 | 1 | G | L40R | 1 | AD | severe retinal dysfunction | early | Al-Maghtheh (1994) Hum. Mut. 3, 409. |
| M | 131 | 1 | C | M44T | 1 | simplex | night blindness and visual field loss | early | Reig (1994) Hum. Genet. 94, 283. |
| M | 133 | 1 | C | F45L | 1 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 137 | 1 | G | L46R | 1 | AD | no rod response and minimal cone response | early | Rodriguez (1993) Hum. Mut. 2, 205. |
| M | 152 | 1 | C | G51A | 1 | AD | night blindness and visual field loss | ND | Macke (1993) Am. J. Hum. Genet. 53, 80. |
| M | 152 | 1 | T | G51V | 2 | AD | reduced rod respnose | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 151 | 1 | C | G51R | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| M | 158 | 1 | G | P53R | 1 | AD | ND | ND | Inglehearn (1992) Hum. Molec. Genet. 1, 41. |
| M | 173 | 1 | G | T58R | 1 | AD | mild retinal dysfunction | ND | Dryja (1990) New Engl. J. Med. 323, 1302. |
| M | 173 | 1 | G | T58R | 1 | AD | ND | ND | Sheffield (1991) Am. J. Hum. Genet. 49, 699. |
| M | 173 | 1 | G | T58R | 1 | AD | mild retinal dysfunction | late | Richards (1991) Ophthalmology 98, 1797. |
| M | 173 | 1 | G | T58R | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| N | 190 | 1 | T | Q64X | 1 | AD | night blindness and visual field loss | ND | Macke (1993) Am. J. Hum. Genet. 53, 80. |
| M | 260 | 1 | A | V87D | 1 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 266 | 1 | A | G89D | 2 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 269 | 1 | A | G90D | 1 | AD | no rod response | early | Sieving (1992) Invest. Ophthalmol. Vis. Sci. (Suppl.) 33, 1397. |
| M | 316 | 1 | A | G106R | 1 | AD | ND | ND | Inglehearn (1992) Hum. Molec. Genet. 1, 41. |
| M | 316 | 1 | T | G106W | 1 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 329 | 1 | A | C110Y | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| M | 329 | 1 | T | C110F | 1 | AD | ND | ND | Fuchs (1994) Hum. Molec. Genet. 3, 1203. |
| M | 341 | 1 | A | G114D | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| P | 360 | 1 | T | 360C/T | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 374 | 1 | G | L125R | 1 | AD | reduced rod respnose | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 380 | 1 | T | S127F | 1 | AD | ND | ND | Souied (1994) Hum. Molec. Genet. 3, 1433. |
| M | 392 | 1 | C | L131P | 1 | AD | ND | ND | Fuchs (1994) Hum. Molec. Genet. 3, 1203. |
| M | 404 | 1 | T | R135L | 1 | AD | severe retinal dysfunction | early | Jacobson (1991) Am. J. Ophthalmol. 112, 256. |
| M | 404 | 1 | T | R135L | 1 | AD | severe retinal dysfunction | early | Andreasson (1992) Ophthal. Paed. Genet. 13, 145. |
| M | 403 | 1 | G | R135G | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 403 | 1 | T | R135W | 2 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 403 | 1 | T | R135W | 1 | AD | severe retinal dysfunction | early | Pannarale (1996) Ophthalmology 103, 1443. |
| N | 408 | 1 | A | Y136X | 1 | AD | mild retinal dysfunction | late | Sanchez (1996) Hum. Mut. 7, 180. |
| M | 409 | 1 | A | V137M | 1 | AD | visual field loss, reduced rod response and strabism | early | Ayuso (1996) Hum. Genet. 98, 51. |
| M | 419 | 1 | C | C140S | 1 | AD | night blindness and visual field loss | ND | Macke (1993) Am. J. Hum. Genet. 53, 80. |
| M | 448 | 1 | A | E150K | 1 | AR | no rod and cone response | early | Kumaramanickavel (1994) Nature Genet. 8, 11. |
| M | 491 | 1 | A | A164E | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| M | 491 | 1 | T | A164V | 1 | AD | ND | ND | Fuchs (1994) Hum. Molec. Genet. 3, 1203. |
| M | 499 | 1 | C | C167R | 1 | AD | reduced rod respnose | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 512 | 1 | A | P171Q | 1 | AD | night blindness and visual field loss | early | Antin olo (1994) Hum. Molec. Genet. 3, 1421. |
| M | 512 | 1 | T | P171L | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 511 | 1 | T | P171S | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| P | 519 | 1 | T | 519C/T | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 533 | 1 | G | Y178C | 1 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 533 | 1 | G | Y178C | 2 | AD | severe retinal dysfunction | early | Farrar (1991) Genomics 11, 1170. |
| M | 532 | 1 | A | Y178N | 1 | AD | ND | ND | Souied (1994) Hum. Molec. Genet. 3, 1433. |
| M | 541 | 1 | A | E181K | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 541 | 1 | A | E181K | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 544 | 1 | A | G182S | 1 | AD | ND | ND | Sheffield (1991) Am. J. Hum. Genet. 49, 699. |
| M | 556 | 1 | C | S186P | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 560 | 1 | A | C187Y | 1 | AD | severe retinal dysfunction | early | Richards (1995) Ophthalmology 102, 669. |
| M | 563 | 1 | A | G188E | 1 | AD | night blindness and visual field loss | ND | Macke (1993) Am. J. Hum. Genet. 53, 80. |
| M | 562 | 1 | A | G188R | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 562 | 1 | A | G188R | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 569 | 1 | G | D190G | 1 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 569 | 1 | G | D190G | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 568 | 1 | A | D190N | 2 | AD | ND | ND | Keen (1991) Genomics 11, 199. |
| M | 568 | 1 | T | D190Y | 1 | AD | ND | ND | Al-Maghtheh (1993) Hum. Mut. 2, 249. |
| M | 620 | 1 | G | M207R | 1 | AD | no rod response and retained cone response | early | Farrar (1992) Hum. Molec. Genet. 1, 769. |
| M | 625 | 1 | A | V209M | 1 | simplex | night blindness and visual field loss | ND | Macke (1993) Am. J. Hum. Genet. 53, 80. |
| M | 632 | 1 | C | H211P | 1 | AD | ND | ND | Keen (1991) Genomics 11, 199. |
| M | 632 | 1 | G | H211R | 1 | AD | night blindness and visual field loss | ND | Macke (1993) Am. J. Hum. Genet. 53, 80. |
| M | 647 | 1 | A | M216K | 1 | AD | abnormal ERG response and defective dark adaptation | variable | Al-Maghtheh (1994) Hum. Mut. 3, 409. |
| M | 659 | 1 | G | F220C | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 664 | 1 | C | C222R | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| N | 745 | 1 | T | E249X | 1 | AR | no rod response and minimal cone response | ND | Rosenfeld (1992) Nature Genet. 1, 209. |
| D | 763-768 | 3 | ATC | 763delATC | 1 | AD | mild retinal dysfunction | early | Inglehearn (1991) Am. J. Hum. Genet. 48, 26. |
| D | 763-768 | 3 | ATC | 763delATC | 1 | AD | ND | ND | Bunge (1993) Genomics 17,230. |
| M | 800 | 1 | G | P267R | 1 | AD | ND | ND | Souied (1994) Hum. Molec. Genet. 3, 1433. |
| M | 800 | 1 | T | P267L | 1 | AD | ND | ND | Sheffield (1991) Am. J. Hum. Genet. 49, 699. |
| M | 886 | 1 | G | K296E | 1 | AD | severe retinal dysfunction and cataract | early | Keen (1991) Genomics 11, 199. |
| M | 886 | 1 | G | K296E | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 891 | 1 | A | S297R | 1 | AD | ND | ND | Souied (1994) Hum. Molec. Genet. 3, 1433. |
| N | 1030 | 1 | T | Q344X | 1 | AD | ND | ND | Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481. |
| M | 1033 | 1 | A | V345M | 1 | AD | reduced rod response | ND | Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370. |
| M | 1033 | 1 | A | V345M | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 1033 | 1 | C | V345L | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| M | 1036 | 1 | C | A346P | 1 | AD | severe retinal dysfunction | early | Borrego (1996) Hum. Mut. 7, 180. |
| M | 1040 | 1 | A | P347Q | 1 | AD | ND | ND | Vaithinathan (1994) Genomics 21, 461. |
| M | 1040 | 1 | G | P347R | 1 | AD | night blindness, visual field loss and myopic oblique astigmatism | early | Gal (1991) Genomics 11, 468. |
| M | 1040 | 1 | G | P347R | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 1040 | 1 | T | P347L | 8 | AD | reduced rod and cone response | ND | Dryja (1990) New Engl. J. Med. 323, 1302. |
| M | 1040 | 1 | T | P347L | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 1039 | 1 | G | P347A | 1 | AD | night blindness and visual field loss | early | Macke (1995) Hum. Molec. Genet. 4, 775. |
| M | 1039 | 1 | T | P347S | 1 | AD | reduced rod response and no cone response | ND | Dryja (1990) New Engl. J. Med. 323, 1302. |
| M | 1039 | 1 | T | P347S | 1 | AD | ND | ND | Bunge (1993) Genomics 17, 230. |
| M | 541 | 1 | A | E181K | 1 | AD | a diffuse loss of rod and cone function, and a relatively good preservation of cone function | early | Saga, M. (1994) Ophthalmic Genet. 15, 61. |
| M | 44 | 1 | G | N15S | 1 | AD | pigmentary degeneration in the lower hemiretina, and visual field defects | late | Yoshii, M. (1998) Ophthalmic Res. 30, 1. |