|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0000613)
|
Photophobia |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0000662)
|
Nyctalopia |
rare [HPO:skoehler]
|
|
|
|
92 / 7739
|
|
5
|
(OMIM)
|
Pigment abnormalities, both central and peripheral |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Retinal vessel attenuation |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
8
|
(OMIM)
|
Irregular pigmentation of fovea with atrophy of RPE (in some patients) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Horizontal oval-shaped fovea (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Moth-eaten appearance of fovea (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Circular patches of pigment epithelial atrophy at the macula and in peripheral retina (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Rod and cone responses reduced or nondetectable on electroretinography |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
15
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|