|
1
|
(HPO:0000587)
|
Abnormality of the optic nerve |
|
|
|
|
5 / 7739
|
|
2
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
3
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0000662)
|
Nyctalopia |
occasional [HPO:skoehler]
|
|
|
|
92 / 7739
|
|
5
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0007994)
|
Peripheral visual field loss |
occasional [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0008043)
|
Retinal arteriolar constriction |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0009926)
|
Increased lacrimation |
|
|
|
|
8 / 7739
|
|
9
|
(OMIM)
|
Initial loss of central visual acuity and color vision |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Photophobia and epiphora in day light |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Eventual loss of peripheral vision and night blindness |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Marked macular degeneration |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Mild retinal arteriolar constriction |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Mild temporal optic nerve pallor |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Mild peripheral retinal pigmentary changes |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|