Phenotype #0000300844
| Individual ID |
00408725 |
| Associated disease |
- |
| Phenotype details |
11y: several-year history of nyctalopia; best corrected visual acuity: 20/20 both eyes; visual field: unreliable; electroretinography: barely recordable responses both eyes; fundus: early optic nerve pallor and surface gliosis, vascular attenuation, depressed foveal reflex, fine retinal pigment epithelium granularityl peripheral retina: a few areas of bone spicule-like pigmentation and a coarse retinal pigment epithelium granularity. 17y: best corrected visual acuity: 20/30 both eyes, visual fields:constricted. 24y: best corrected visual acuity right, left eye: 20/50, 20/30; greatly constricted visual field; fundus: heavy bone spicule pigmentation in the equatorial region both eyes; medical history: petit mal seizures beginning at the age of 8 yr, controlled with medication |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
11y (11 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
night blindness |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-26 12:48:47 +02:00 (CEST) |
| Date last edited |
N/A |
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