Phenotype #0000305018
| Individual ID |
00413037 |
| Associated disease |
- |
| Phenotype details |
rod-cone dystrophy: 8y, acuity right, left eye: 0.01, 0.04, with mild myopia and astigmatism, no medication; fundus: binocular diffuse retinal degeneration; visual field: centipede constriction (binocular); optical coherence tomography: binocular diffuse thinning of outer retinal layer. macular atrophy, no macular edema, no cystic changes, elipsoid zone loss; fundus autofluorescence: binocular mottled pattern, no perifoveal ring; polydactyly at birth; both feet -plastic surgery (19m); 9y: obesity;height: 164 cm; weight: 78.1 kg; body mass index: 29 kg/m2, no medication; hypogonadism - testosterone: 300-600 ng/dl - no medication; 7d: renal anomalies: cystic kidney; creatinine: 1.79 mg/dl BUN: 21 mg/dl eGFR cre: 37.2 mL/min/1.73 m2- no medication; no mental retardation; secondary BBS signs: 3m: Hirschsprung disease - surgery (28m); 9y: abnormal glucose tolerance - HbA1c: 5.6%, 75 g oral glucose tolerance test: 82 mg/dL at 0 h, 185 mg/dL at 2 h - no medication; exotropia NA - Bilateral lateral rectus muscle recession (14 years old) Hypertension 27 Years old Blood pressure = 145/83 mm Hg Oral medicine (Azilsartan 20 mg and Amlodipine besilate 3.47 mg per day); binocular anterior sub-capsular cataract; no heart disease; no liver fibrosis |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Bardet-Biedl syndro |
| Age/Examination |
8y (8 years) |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-07 20:52:35 +02:00 (CEST) |
| Date last edited |
N/A |
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