Phenotype #0000302051
| Individual ID |
00409937 |
| Associated disease |
- |
| Phenotype details |
nyctalopia in 1st decade of life; visual field loss: 1st decade of life; visual acuity loss: ; best corrected visual acuity: 20/20; macula: sheen, normal pigmentation, white dots; age at visual field testing: 11y - central horizontal diameter V-4e (deg): not available (only a description of the visual field in the medical record)/; central horizontal diameter I-4e (deg): not available (only a description of the visual field in the medical record)/; minimal isopter size observed on Goldmann kinetic perimetry: not available (only a description of the visual field in the medical record); seeing retinal area V4e (mm2): not available (only a description of the visual field in the medical record)/; pattern: multiple relative scotomas in periphery. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinal dystrophy |
| Age/Examination |
20y (20 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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