Phenotype #0000307110
| Individual ID |
00415313 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 125/200, 50/200; refraction (spherical equivalent) right, left eye: -8.0D, -7.0D; fundus: mild peripapillary atrophy granular aspect of macula, periphery no abnormalities; autofluorescence: symmetrical central alterations at the level of the outer retinal layers; optical coherence tomography:relatively symmetrical central alterations at the level of the outer retinal layers; color vision testing:both eyes red-green defect with decreased redsensitivity (37y); visual field (Goldmann):decrease of central sensitivity, no other abnormalities; electroretinogram:photopic and scotopic responses normal, multifocal: significantly reduced central responses |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
macular dystrophy |
| Age/Examination |
54y (54 years) |
| Age/Diagnosis |
37y |
| 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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