Phenotype #0000298292
| Individual ID |
00405795 |
| Associated disease |
- |
| Phenotype details |
blurred vision, age at first visit (y): 25, right eye: phenotype IV: either one lesion at the posterior pole resembling unifocal Best vitelliform macular dystrophy (BVMD) with multifocal BVMD, best corrected visual acuity first/last visit: 0.8 / 0.125 , refraction: -3.25/ -0.25; left eye: phenotype IV: either one lesion at the posterior pole resembling unifocal Best vitelliform macular dystrophy (BVMD) with multifocal BVMD, best corrected visual acuity first/last visit: 0.8 / 0.2 , refraction: -1.75/ -1.00 |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
autosomal recessive bestrophinopathy (ARB) |
| Age/Examination |
25y (25 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 |
2022-03-22 14:27:19 +01:00 (CET) |
| Date last edited |
N/A |
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