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. |