Phenotype #0000306982
| Individual ID |
00415183 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 20/60, 20/50; refractive error (D) right, left eye: +12.00/-2.62 x 180deg, +12.12/-2.00 x 175deg; 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):17.2,17.5; 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: mild; pulmonary stenosis: present; gastroenterology symptoms: absent; height: 149 cm (just above the 3rd percentile); neutrophils ref. range (1.0-5.0) x 109/l: 0.2-1.11 (median 0.5); lactate ref. range (0.5-2.2) mmol/l: 1.5-5.2 (median 2.6); uric acid ref. range (0.20-0.45) mmol/l: 0.38-0.59 (median 0.4); triglycerides ref. range (0.0-2.3) mmol/l: 1.8-11.6 (median 3.0); cholesterol ref. range (3.5-5.2) mmol/l: 3.2-4.6 (median 3.8); aspartate aminotransferase ref. range (0-40) U/l: 22-105 (median 33); alanine aminotransferase ref. range (0-40) U/l: 19-82 (median 31); alkaline phosphatase ref. range (40-129) U/l: 159-224 (median 195); estimated gfr normal > 60 ml/min/1.73 m2: Normal; 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): Normal; alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: Hepatomegaly with fatty liver changes; findings on latest magnetic resonance imaging abdomen: not done yet |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
glycogen storage disease type Ib; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| Age/Examination |
13y (13 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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