Phenotype #0000302613
| Individual ID |
00410509 |
| Associated disease |
- |
| Phenotype details |
decade of life: 50s; presenting symptoms (duration of symptoms, years): central visual loss (40y); visual acuity, logMAR: light perception both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: nystagmus; intraocular lens implant and retinal implant in right eye; cataract in left eye |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
cone-rod dystrophy |
| Age/Examination |
14y (14 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-27 19:56:51 +02:00 (CEST) |
| Date last edited |
N/A |
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