Phenotype #0000308015
| Individual ID |
00416248 |
| Associated disease |
- |
| Phenotype details |
39y: stopped driving because of night blindness; 45y:constriction of the visual field; 55y: early cataracts; funduscopy: pale papillae, narrowing of retinal vessels, and bone spicule-like pigmentation in the periphery; scotopic electroretinogram: extinguished, the photopic ERG was almost extinguished |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
73y (73 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
night blindness |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-25 20:34:08 +02:00 (CEST) |
| Date last edited |
N/A |
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