|
1
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000575)
|
Scotoma |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
8
|
(OMIM)
|
Myopia, moderate to high |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Reduced central vision, progressive |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Astigmatism, variable |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Nystagmus, horizontal, mild |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Reduced red-green color vision, progressive |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Macular atrophy, mild (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Macular dysfunction, marked, on electroretinography |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Reduced and delayed cone responses on electroretinography |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Supernormal and delayed rod responses on electroretinography |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Central scotomata on photopic and dark-adapted perimetry testing |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Peripheral sensitivity loss, widespread, on photopic and dark-adapted perimetry testing |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|