Phenotype #0000306981
| Individual ID |
00415182 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 20/40, 20/50; refractive error (D) right, left eye: +15.25-1.25 x 160deg, +15.62-1.00 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):15.8,16.0; 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: absent; gastroenterology symptoms: absent; height: 139 cm (���4 SD for age); neutrophils ref. range (1.0-5.0) x 109/l: 0.3-1.6 (median 0.7); lactate ref. range (0.5-2.2) mmol/l: 2.4-8.3 (median 4.4); uric acid ref. range (0.20-0.45) mmol/l: 0.27-1.05 (median 0.82) on allopurinol; triglycerides ref. range (0.0-2.3) mmol/2.9 (median 7.5); cholesterol ref. range (3.5-5.2) mmol/l: 4.9-9.6 (median 5.9); aspartate aminotransferase ref. range (0-40) U/l: 31-87 (median 40); alanine aminotransferase ref. range (0-40) U/l: 22-84 (median 40); alkaline phosphatase ref. range (40-129) U/l: 130-350 (median 211); 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): 5.0-105 (median 15) Overt nephropathy/Heavy Proteinuria > or = 70 mg/mmol, now on Lisinopril; alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: hepatomegaly, fatty liver, small hypoechoic lesion in the right lobe, hyperechogenic kidneys; 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 |
17y (17 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 |
|
