Phenotype #0000307109
| Individual ID |
00415312 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 10/200, 10/200; refraction (spherical equivalent) right, left eye: -8.0D, -7.0D; fundus: papillary rim somewhat pale, attenuated arteries, macular pigmentations, seems macular bull's eye (29y). central retinal pigment epithelium and choroid atrophy, subjectively stable (59y); autofluorescence: hyperfluorescent small central area; optical coherence tomography:not performed; color vision testing:acquired red-green defect with tendency to central achm both eyes (29y); visual field (Goldmann):reduced central sensitivity, periphery normal (31y); electroretinogram:photopic and scotopic responses normal (51y), multifocal electroretinography severely reduced responses |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
macular dystrophy |
| Age/Examination |
66y (66 years) |
| Age/Diagnosis |
29y |
| 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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