Phenotype #0000300659
| Individual ID |
00408542 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 6/6, 6/60; left retina: disciform scar, drusen at the right macula, peripheral retinal pigmentation in both eyes; electroretinogram: photopic responses within normal limits (although those from the right eye were larger than from the left); scotopic responses: subnormal in both eyes; electro-oculogram Arden ratio: 1.2 indicating retinal pigment epithelial dysfunction; 44y: vision in the right eye deteriorated over a period of several weeks to 6/24- flat pigmentary disturbance which did not leak on fluorescein angiography; rheumatological and general medical examination was normal; creatinine was 116 �mol/l (normal less than 110), urea 5.2 mmol/l. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
Sorsby fundus dystrophy |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
36y |
| Phenotype/Onset |
blurred vision in the left eye |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-22 15:32:48 +02:00 (CEST) |
| Date last edited |
N/A |
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