|
1
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0001696)
|
Situs inversus totalis |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
|
3
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
4
|
(OMIM)
|
Impaired visual fields |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
6
|
(OMIM)
|
Bone-spicule-like pigmentation in midperiphery, mild-to-moderate |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Attenuated retinal blood vessels |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Macular atrophy, marked |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Epiretinal membranes, with wrinkling of retina |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Severely reduced or undetectable photopic and scotopic responses on electroretinography |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Posterior subcapsular cataracts, mild (rare) |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|