Phenotype #0000309222
| Individual ID |
00417849 |
| Associated disease |
BBS |
| Phenotype details |
22y: suspected retinal dystrophy; best-corrected decimal acuity right/left eye: 0.1 / 0.3 OS; mild myopia and astigmatism; no nystagmus; exotropia; anterior segments normal; fundus: diffuse retinal degeneration with macular atrophy and narrowed retinal vessels; no bone-spicule pigmentation, no waxy pale optic discs; failed all the Ishihara color vision plate tests; visual field Goldmann perimetry: severe concentric constrictions; full-field electroretinograms: non-recordable under all standard stimuli and recording conditions; optical coherence tomography: thinning of the outer retinal layer, disruption of the ellipsoid line from the foveal to the surrounding area, and multiple small deposits above Bruch's membrane; fundus autofluorescence: punctate hypo-autofluorescent areas; previous history of surgical excision of polydactyly on her foot at 6y; central obesity (height 157.3 cm, weight 84.1 kg, body-mass index: 33.9 kg/m2); no learning disabilities; manner of speech during consultations coherent; g from a mainstream school with average grades; speech: hypernasal with poor pronunciation; hearing loss and dental anomalies not identified by school health examinations; blood pressure: 127/84 mmHg, resting heart rate: 83bpm; hyperglyceridemia (triglycerides 236 mg/dL; reference values 40-149 mg/dL), hypercholesterolemia (totalcholesterol 236 mg/dL; reference values 140-219 mg/dL),and insulin resistance; but fasting bloodglucose (106 mg/dL; reference values 70-110 mg/dL) and glycosylated hemoglobin levels (5.8 %; reference values 4.6-6.2 %) within the normal range; serum creatinine (0.80 mg/dL; reference values 0.46-0.82 mg/dL) and BUN levels (11.1 mg/dL; reference values 8.6-21.6mg/dL) normal; ultrasound examinations: no anomalies in the kidneys; liver enzymes showed increased activity owing to a fatty liver: aspartate transaminase (AST) activity: 164 U/L (reference values 10-35 U/L), alanine transaminase (ALT) activity: 235 U/L (reference values 6-30 U/L); menstrual irregularities, but secretion of gonadotropic hormone and estrogen within the normal range |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Bardet-Biedl syndrome (BBS) |
| Age/Examination |
22y (22 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 |
2022-09-26 14:58:39 +02:00 (CEST) |
| Date last edited |
2022-09-26 14:59:26 +02:00 (CEST) |
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