Phenotype #0000302043
| Individual ID |
00409929 |
| Associated disease |
- |
| Phenotype details |
nyctalopia in 1st decade of life; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: counting fingers; macula: profound chorioretinal and retinal pigment epithelium atrophy, sharply demarcated. pigment clumping.; age at visual field testing: 23y - central horizontal diameter V-4e (deg): 1.5/2; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: III-4e; seeing retinal area V4e (mm2): not available/679.1; pattern: absolute central scotoma. peripheral wedge of vision. 50y - central horizontal diameter V-4e (deg): 0/0; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: I-4e; seeing retinal area V4e (mm2): 213.6/234.6; pattern: large absolute central scotoma with small island of foveal sparing. midperipheral remaining ring.; change (mm2/year):-16.8 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinal dystrophy |
| Age/Examination |
75y (75 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-14 11:49:20 +02:00 (CEST) |
| Date last edited |
N/A |
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