1
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
3
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
4
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
5
|
(HPO:0000480)
|
Retinal coloboma |
|
|
|
|
16 / 7739
|
6
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
7
|
(HPO:0000611)
|
Choroid coloboma |
|
|
|
|
12 / 7739
|
8
|
(HPO:0007808)
|
Bilateral retinal coloboma |
|
|
|
|
4 / 7739
|
9
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
10
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
11
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
12
|
(HPO:0001105)
|
Retinal atrophy |
|
|
|
|
10 / 7739
|
13
|
(HPO:0001150)
|
Choroidal sclerosis |
|
|
|
|
5 / 7739
|
14
|
(HPO:0007667)
|
Cystic retinal degeneration |
|
|
|
|
1 / 7739
|
15
|
(HPO:0007984)
|
Reduced amplitude of dark-adapted bright flash electroretinogram b-wave |
|
|
|
|
3 / 7739
|
16
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
17
|
(OMIM)
|
Intraretinal splitting |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Cystic maculopathy |
|
|
|
|
1 / 7739
|
19
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
20
|
(HPO:0008499)
|
High-grade hypermetropia |
|
|
|
|
14 / 7739
|
21
|
(OMIM)
|
Significantly decreased axial length |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Electroretinogram (ERG) shows a reduced b-wave in most cases |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Mizuo-Nakamura phenomenon (fundus color changes from red in the dark-adapted state to golden after light exposure) |
|
|
|
|
1 / 7739
|
24
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
25
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
|
|
24 / 7739
|
26
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
27
|
(HPO:0030502)
|
Retinoschisis |
|
|
|
|
3 / 7739
|