|
1
|
(HPO:0000493)
|
Abnormality of the fovea |
|
|
|
|
1 / 7739
|
|
2
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
3
|
(HPO:0000591)
|
Abnormality of the sclera |
|
|
|
|
3 / 7739
|
|
4
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0007737)
|
Bone spicule pigmentation of the retina |
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0008323)
|
Abnormal light- and dark-adapted electroretinogram |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0011510)
|
Drusen |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0012152)
|
Foveoschisis |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0012426)
|
Optic disc drusen |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Microphthalmia, posterior |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Scleral thickening |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Rod responses extinguished on ERG |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Cone responses decreased on ERG |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Retinal pigment epithelium atrophy with pigment clumping and bone-spicule pigmentation |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Absence of foveal pit |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
18
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
21
|
(HPO:0000613)
|
Photophobia |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
22
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
23
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
24
|
(HPO:0007722)
|
Retinal pigment epithelial atrophy |
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0011505)
|
Cystoid macular edema |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|