|
1
|
(HPO:0000603)
|
Central scotoma |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0008001)
|
Foveal hyperpigmentation |
|
|
|
|
2 / 7739
|
|
3
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
4
|
(OMIM)
|
Decreased visual acuity, rapidly progressive |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Foveal hyperfluorescence |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Foveal atrophy (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Defects in all axes of color vision |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Lack of photoreceptors in fovea by optical coherence tomography |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Nondetectable photopic responses on electroretinography |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Reduced scotopic responses on electroretinography |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|