Phenotype #0000303383
| Individual ID |
00411307 |
| Associated disease |
- |
| Phenotype details |
23y: best corrected visual acuity 20/70 both eyes; ophthalmoscopy: retinal pigmentation sparse, typical bone spicule appearance predominantly in the inferior midperipheral retina; cystoid macular edema both eyes; fluorescein angiography showed pooling of dye in the cystoid spaces; electroretinogram: non-recordable rod response and reduction in cone response with implicit time; dark adaptation test: biphasic pattern with elevated rod and cone thresholds; 38y: best corrected visual acuity: 20/200, ophthalmoscopy: heavy asteroid hyalosis in the right eye, pigmentation increased in all quadrants of both eyes; predominant loss of field within the superior visual field, as well as a progressive loss of the inferior field, retaining only a small central island |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
39y (39 years) |
| Age/Diagnosis |
10y |
| Age/Onset |
10y |
| Phenotype/Onset |
poor night vision |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-06-10 14:42:31 +02:00 (CEST) |
| Date last edited |
N/A |
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