|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000540)
|
Hypermetropia |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
|
3
|
(HPO:0008499)
|
High-grade hypermetropia |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
8
|
(OMIM)
|
Poor vision at birth |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Vision loss, progressive, during childhood or adolescence |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Visual acuity ranging from perception of light to 20/100 |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0006934)
|
Congenital nystagmus |
|
|
|
|
10 / 7739
|
|
12
|
(OMIM)
|
Ocular pursuit poor or absent |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Oculodigital sign of Franceschetti |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Visual fields moderately to severely restricted |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Color vision disturbed |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Pupillary reflex sluggish |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Fundus examination normal at birth |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Foveolar reflex indistinct |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Maculopathy, marked (in older patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Peripapillary retinal pigment epithelium atrophy (in older patients) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Pigment retinopathy (in all but youngest patients) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Retinal vessel attenuation |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Electroretinograms unrecordable at birth or in infancy |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
26
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
27
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
|
|
20 / 7739
|
|
28
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
29
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
30
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
31
|
(HPO:0030211)
|
Slow pupillary light response |
|
|
|
|
2 / 7739
|