|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000603)
|
Central scotoma |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
5
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
|
|
20 / 7739
|
|
7
|
(OMIM)
|
Bone-spicule pigment clumping |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Attenuated retinal vessels |
|
|
|
|
4 / 7739
|
|
9
|
(OMIM)
|
Tritan color vision deficits (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Severe loss of rod and cone function on electroretinography |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Cone implicit times consistent with progressive disease |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
14
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|