Phenotype #0000308308
| Individual ID |
00416588 |
| Associated disease |
- |
| Phenotype details |
major complaint: difficulty going down steps and curbs in dim light or at night; peripheral vision poor, frequent inability to locate objects; best corrected visual acuity right, left eye: 20/20���2, 20/20���2; slit lamp findings: normal bilaterally; ophthalmoscopy: clear vitreous both eyes, normal discs; both maculae normal without edema; the midperiphery: numerous bone-spicule-like pigment deposits; retinal arterioles: slightly narrowed by comparison to the veins; static perimetry: sensitivity was minimally disturbed in the fovea and central 15 deg; sensitivity zero at most locations beyond 7.5 deg eccentricity, region of preserved function in the lower temporal field; visual thresholds following 45 min of dark adaptation: elevated by 1.5 log unit; full-field electroretinograms: standard rod response was not detectable; the maximum rod photoresponse to a 4.2 log scot td-sec flash:10 uV, compared to a lower limit of normal of 155 uV, cone b-wave amplitude to 31 Hz flicker was 6.4 uV, compared to normal of 35 uV., cone b-wave implicit time delayed by 9.3 msec; the maximum cone photoresponse obtained in the presence of a 3.2 log td background:7.7 uV, compared to a lower limit of normal of 33.7 uV |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
31y (31 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 |
|
