|
1
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
3
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
6
|
(HPO:0011478)
|
True anophthalmia |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
|
|
19 / 7739
|
|
8
|
(HPO:0010693)
|
Pulverulent cataract |
|
|
|
|
6 / 7739
|
|
9
|
(OMIM)
|
Night blindness onset during teen years |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Vitreoretinochoroidopathy |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Punctate white opacities in the retina |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Vitreous fibrillar condensation |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Breakdown of the blood retinal barrier with retinal neovascularization |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Fundus dystrophy |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Peripheral retinal pigment epithelium atrophy |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Retinal pigmentation anterior to boundary of the staphyloma in younger patients |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Pigmentary retinopathy throughout the posterior pole and into the staphyloma in older individuals |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Posterior staphyloma in most eyes |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Reduced axial length (nanophthalmos) if no staphyloma |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Glaucoma, chronic angle-closure, in older patients |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000517)
|
Abnormality of the lens |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
23
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|