Symptom Information: Sort according to HPO 

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