|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0200070)
|
Peripheral retinal atrophy |
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
6
|
(OMIM)
|
Color vision deficits (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Attenuation of retinal vessels |
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Macular atrophy |
|
|
|
|
5 / 7739
|
|
9
|
(OMIM)
|
Bull's-eye macular retinal pigment epithelium changes |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Intraretinal pigment deposition extending to posterior pole (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Bone-spicule pigment depositions (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Pigment mottling in mid-periphery (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
High reflectivity of fundus (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Wrinkled appearance of inner retina (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Photoreceptor layer thinned on optical coherence tomography (OCT) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hyperreflective bodies below the outer limiting membrane on OCT |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Electroretinographic responses reduced or nonrecordable |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Autofluorescent dots in posterior pole |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
21
|
(HPO:0007401)
|
Macular atrophy |
|
|
|
|
14 / 7739
|