Phenotype #0000301984
| Individual ID |
00409870 |
| Associated disease |
- |
| Phenotype details |
nyctalopia, visual field constriction, reduced vision, no photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: 0.66/hand movement; electroretinography (pattern): severe bilateral macular dysfunction, full-field: undetectable |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
early onset retinal dystrophy |
| Age/Examination |
54y (54 years) |
| Age/Diagnosis |
- |
| Age/Onset |
1y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-13 10:41:21 +02:00 (CEST) |
| Date last edited |
N/A |
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