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. |