|
1
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0000563)
|
Keratoconus |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
|
3
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0007401)
|
Macular atrophy |
|
|
|
|
14 / 7739
|
|
5
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
6
|
(HPO:0007688)
|
Undetectable light- and dark-adapted electroretinogram |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0007843)
|
Attenuation of retinal blood vessels |
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0012043)
|
Pendular nystagmus |
|
|
|
|
11 / 7739
|
|
9
|
(OMIM)
|
Poor central vision or blindness from birth |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Night blindness, severe |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Pigment clumping |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Retinal vessels severely attenuated |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Macular atrophy |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Cone and rod responses borderline or nondetectable on electroretinography (ERG) by the second decade of life |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|