|
1
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
6
|
(HPO:0008020)
|
Progressive cone degeneration |
|
|
|
|
4 / 7739
|
|
7
|
(OMIM)
|
Macular granularity (in some patients) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Central macular atrophy |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Central scotoma on Goldmann visual field (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Supernormal and delayed scotopic rod electroretinogram (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Cone degeneration, stationary (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal scotopic responses on rod electroretinogram (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Severely reduced cone and absent 30Hz flicker responses on cone electroretinogram (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|