|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
2/3 [HPO:probinson]
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0007761)
|
Pericentral scotoma |
2/3 [HPO:probinson]
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0007782)
|
Peripheral retinal cone degeneration |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Visual acuity loss (none to moderate (20/16 to 20/100)) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Mild temporal pallor of the optic disc (partial optic atrophy) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Defective color vision in some patients |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Preserved rod function |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Distinctive electroretinogram - focal macular cone ERG is well-preserved |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Relative paracentral scotoma in 2/3 of patients |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Rod-cone perimetry showed normal rod sensitivity, but impaired peripheral cone sensitivity |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|