Phenotype #0000307669
| Individual ID |
00415897 |
| Associated disease |
- |
| Phenotype details |
symptoms: decreased vision, nyctalopia, photophobia; best corrected visual acuity: 20/60; refractive error: 0.75; fundus findings: granular changes; visual field findings: central scotoma; color vision abnormalities: protan-deutan; documented progression of condition: no data ava |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone dystrophy with supernormal rod electroretinogram |
| Age/Examination |
9y (9 years) |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-17 13:46:03 +02:00 (CEST) |
| Date last edited |
N/A |
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