Phenotype #0000302275
| Individual ID |
00410171 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity: 20/20; fundus: macular atrophy: absent, bone spicules: absent; fundus autofluorescence: central hypoautofluorescence: mild, hyperautofluorescent ring: absent, peripheral hypoautofluorescence: mild; optical coherence tomography: fovea, ellipsoid zone loss: mild, outer nuclear layer loss: mild, parafoveal ellipsoid zone loss: moderate, outer nuclear layer loss: severe; macular edema: severe; visual field: central scotoma: mild, visual field constriction: to 10deg (54y); full field electroretinography: rod: not detectable, cone: mildly reduced (51y); pattern electroretinography: moderately reduced; multifocal electroretinography: paracentrally: mildly reduced, centrally: spared |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinal degeneration |
| Age/Examination |
54y (54 years) |
| Age/Diagnosis |
- |
| Age/Onset |
>45y |
| Phenotype/Onset |
mild nyctalopia |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-19 14:49:43 +02:00 (CEST) |
| Date last edited |
N/A |
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