Phenotype #0000293119
| Individual ID |
00400078 |
| Associated disease |
USH |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
Usher syndrome type 2 |
| Phenotype details |
onset of night blindness at teenage, typical RP features; fundus photographs: attenuation of retinal arteries, bone-spicule pigmentation of the retina and waxy optic disc; fundus autofluorescence: patchy hypo-autofluorescence in the mid-peripheral retina and hyper-autofluorescence in the macula; optical coherence tomography (OCT): significant reduction in retinal thickness and extensive disruption in ellipsoid zone; electroretinography: the representative flattening in the rod and cone response; pure-tone audiometry: bilateral down-sloping severe sensorineural hearing loss indicating the diagnosis of USH2; no delayed gait development, no poor speech acquisition and balance disturbance or unstable walking |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| 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 |
2022-01-24 14:27:52 +01:00 (CET) |
| Date last edited |
N/A |
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