Phenotype #0000308311
| Individual ID |
00416591 |
| Associated disease |
- |
| Phenotype details |
night vision and side vision impairment, poor central vision; ophthalmoscopy: clear vitreous both eyes and normal discs; both maculae: normal without edema; the midperiphery - numerous bone-spicule-like pigment deposits; retinal arterioles were - slightly narrowed by comparison to the veins; best corrected visual acuity right, left eye: 20/20-2, 20/20-2; visual field: Humphrey perimetric values could only be obtained from the central four locations on the 30-2 field; all locations decreased in sensitivity by at least 20 dB with the exception of the fovea, where sensitivity within the normal range; full-field electroretinograms: standard rod response was not detectable, as was the maximum rod photoresponse; cone b-wave amplitude to 31 Hz flicker was 0.5 uV, compared to a lower limit of normal of 35 uV; cone b-wave implicit time was within the normal range |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
41y (41 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 |
2022-09-05 15:54:25 +02:00 (CEST) |
| Date last edited |
N/A |
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