Phenotype #0000305021
| Individual ID |
00413040 |
| Associated disease |
- |
| Phenotype details |
disease course: slow progressive reduction of visual acuity; first subjective changes 30y; visual acuity right; left eye: 20/32; 20/32; refractive errora (sph/cyl) right; left eye: -0.50/-0.50; -0.25/-0.50; color vision (confusion index) right; left eye: 2.17; 1.95; dark adaptation: normal final threshold; electroretinogram: scotopic: rod response just below the lower (5th) percentile range of unaffected, mixed rod/cone response (standard flash) slightly reduced, implicit times normal, b/a ratio markedly reduced (""negative"" erg), photopic: markedly reduced, prolonged implicit times; anterior segment: posterior synechiae after iridocyclitis (at age 33 years); fundus: left eye, slight mottling of the pigment epithelium in the foveal region, epiretinal gliosis left eye, otherwise inconspic |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy |
| Age/Examination |
46y (46 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 |
2022-07-08 10:58:46 +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.
|
