Phenotype #0000301216
| Individual ID |
00409101 |
| Associated disease |
- |
| Phenotype details |
night blindness (34 y), field constriction (36 y), progressive loss of visual acuity (37 y), glare sensitivity (37 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: 40/200-counting fingers; refractive error: +0.5+0.75; visual field: concentric constriction with remaining central island right eye; absolute scotoma left eye; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal; slight pallor of the optic disc, narrowed vessels, well-demarcated polymorph chorioretinal atrophy in the macula, sparse bone spicules in the mid periphery, single round, well-demarcated areas of chorioretinal atrophy in the periphery |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
49y (49 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 |
2022-04-30 20:17:24 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
