|
1
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
4
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0000568)
|
Microphthalmia |
Occasional [HPO:probinson]
|
|
|
|
183 / 7739
|
|
8
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
12
|
(HPO:0007641)
|
Dyschromatopsia |
Occasional [HPO:probinson]
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0007661)
|
Abnormality of chorioretinal pigmentation |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0007902)
|
Vitreous hemorrhage |
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0007985)
|
Retinal arteriolar occlusion |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0008043)
|
Retinal arteriolar constriction |
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0010693)
|
Pulverulent cataract |
|
|
|
|
6 / 7739
|
|
18
|
(OMIM)
|
Night blindness onset during teen years |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Vitreoretinochoroidopathy |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Punctate white opacities in the retina |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Vitreous fibrillar condensation |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Breakdown of the blood retinal barrier with retinal neovascularization |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Fundus dystrophy |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Peripheral retinal pigment epithelium atrophy |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Retinal pigmentation anterior to boundary of the staphyloma in younger patients |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Pigmentary retinopathy throughout the posterior pole and into the staphyloma in older individuals |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Posterior staphyloma in most eyes |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Reduced axial length (nanophthalmos) if no staphyloma |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Glaucoma, chronic angle-closure, in older patients |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|