Phenotype #0000307108
| Individual ID |
00415311 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 1/60, 10/200; refraction (spherical equivalent) both eyes: both eyes: -6.0D; fundus: myopic configuration of optic disc, peripapillary atrophy, retinal pigment epithelium changes in macula, periphery no abnormalities (57y) profound atrophy central in fovea; autofluorescence: hypofluorescent central area surrounded by a hyperfluorescent ring; optical coherence tomography:foveal atrophy, thinned retina; color vision testing:both eyes highly variable with red-green defect (57y); visual field (Goldmann):right eye inferior temporal defect in i2, decrease of central sensitivity and slightly enlarged blind spot, left eye decrease of central sensitivity (57y); electroretinogram:multifocal electroretinography severely reduced responses (57y), photopic responses subnormal, scotopic responses normal (61y) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
macular dystrophy |
| Age/Examination |
67y (67 years) |
| Age/Diagnosis |
57y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-11 14:38:16 +02:00 (CEST) |
| Date last edited |
N/A |
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