|
1
|
(HPO:0000603)
|
Central scotoma |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0007754)
|
Macular dystrophy |
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0007793)
|
Granular macular appearance |
|
|
|
|
2 / 7739
|
|
5
|
(OMIM)
|
Bilateral macular retinal pigment epithelial mottling |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Bilateral macular retinal pigment epithelial atrophy |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Bilateral red-speckled retinal pigment epithelium |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Ring of moderately increased perifoveal autofluorescence |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Gradual progressive loss of central visual acuity |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Electro-oculogram (EOG), flash electroretinogram (ERG) and pattern ERG (PERG) initially normal |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Greatly reduced light-adapted scotopic and photopic ERG by 7th decade |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Unrecordable PERG by 7th decade |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
15
|
(HPO:0007722)
|
Retinal pigment epithelial atrophy |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0030629)
|
Perifoveal ring of hyperautofluorescence |
|
|
|
|
1 / 7739
|