Phenotype #0000299946
| Individual ID |
00407816 |
| Associated disease |
- |
| Phenotype details |
night blindness, blurred vision, peripheral visual field defects (1 y), visual acuity: 10/100 // 10/100 (9 y); best corrected visual acuity right, left eye: 10/100, 10/100, refractive error right, left eye: +5.25, +6.75, visual field right // left eye: constriction to 5deg (V/4e), electroretinogram: scotopic / photopic: residual responses, anterior segment and fundus: anterior segment: normal, normal optic disc, physiological macular reflexes, midperipheral retinal pigment epithelium atrophy with bone spicules anterior segment: normal, normal optic disc, narrowing of retinal vessels; macular pigment mottling; midperipheral retinal pigment epithelium atrophy; bone spicules |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Leber congenital amaurosis/early-onset severe retinal dystrophy |
| Age/Examination |
14y (14 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 |
2022-04-08 20:30:05 +02:00 (CEST) |
| Date last edited |
N/A |
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