Phenotype #0000302278
| Individual ID |
00410174 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity: 20/80; fundus: macular atrophy: absent, bone spicules: moderate; fundus autofluorescence: central hypoautofluorescence: mild, hyperautofluorescent ring: mild, peripheral hypoautofluorescence: mild; optical coherence tomography: fovea, ellipsoid zone loss: moderate, outer nuclear layer loss: moderate, parafoveal ellipsoid zone loss: intermittent, outer nuclear layer loss: severe; macular edema: severe; visual field: central scotoma: absent, visual field constriction: nasal/inferior/superior (21y); full field electroretinography: rod: not detectable, cone: severely reduced (10y); pattern electroretinography: not applicable; multifocal electroretinography: not applicable |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinal degeneration |
| Age/Examination |
21y (21 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<10y |
| Phenotype/Onset |
mild nyctalopia, mild visual acuity loss |
| 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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