Phenotype #0000306980
| Individual ID |
00415181 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 20/35, 20/40; refractive error (D) right, left eye: +12.50/-1.00 x 175deg, +13.50/-0.75 x 10deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):16.3,16.3; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: severe; pulmonary stenosis: present; gastroenterology symptoms: recurrent diarrhea; height: 164 cm (10th percentile); neutrophils ref. range (1.0-5.0) x 109/l: 0.2-1.2 (median 0.3); lactate ref. range (0.5-2.2) mmol/l: 1.6-6.6 (median 2.3); uric acid ref. range (0.20-0.45) mmol/l: 0.34-0.65 (median 0.45); triglycerides ref. range (0.0-2.3) mmol/l: 2.0-7.2 (median 2.5); cholesterol ref. range (3.5-5.2) mmol/l: 3.3-4.6 (median 3.6); aspartate aminotransferase ref. range (0-40) U/l: 28-52 (median 26); alanine aminotransferase ref. range (0-40) U/l: 15-68 (median 24); alkaline phosphatase ref. range (40-129) U/l: 139-263 (median 204); estimated gfr normal > 60 ml/min/1.73 m2: > 90; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): 0.6-1.9 (median 0.8); alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: enlarged liver with hyperechoic parenchymal appearance, possible focal adenoma in segment VII ; findings on latest magnetic resonance imaging abdomen: overall stationary two focal lesions of the liver which are most probably adenomas |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
glycogen storage disease type Ib; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| Age/Examination |
18y (18 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 |
2022-08-09 14:23:32 +02:00 (CEST) |
| Date last edited |
N/A |
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