Phenotype #0000300075
Individual ID |
00407945 |
Associated disease |
- |
Phenotype details |
2y: electroretinogram: nonrecordable, cycloplegic refraction: +3.25 in both eyes, dystrophic retina; 7y: best corrected visual acuity: 20/100; cycloplegic refraction: +6.50 -1.00 x 180, +7.00), exotropia of approximately 20delta; no voluntary eyelid elevation could be elicited, forced incomplete elevation (Bell phenomenon) in both eyes; other ductions full, no ptosis; fundus: dystrophic changes |
Diagnosis/Initial |
- |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
retinitis pigmentosa |
Age/Examination |
7y (7 years) |
Age/Diagnosis |
- |
Age/Onset |
0m |
Phenotype/Onset |
poor vision since soon after birth |
Protein |
- |
Owner name |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-04-11 13:19:42 +02:00 (CEST) |
Date last edited |
N/A |
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