Phenotype #0000302351
Individual ID |
00410246 |
Associated disease |
- |
Phenotype details |
19y: best corrected visual acuity right, left eye: 6/9+, 6/30+; full field electroretinogram, light and dark adaptation: not done; funduscopy: bone spicule pigmentation; bull's eye maculopathy; 22y: best corrected visual acuity right, left eye: 6/12, 6/30; full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; bull's eye maculopathy |
Diagnosis/Initial |
- |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
retinitis pigmentosa |
Age/Examination |
22y (22 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 |
2022-05-22 11:31:27 +02:00 (CEST) |
Date last edited |
N/A |
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