Phenotype #0000337192
| Individual ID |
00448003 |
| Associated disease |
- |
| Phenotype details |
see paper; ..., color vision deficiency since childhood with progressive deterioration; 15-glasses for mild-moderate myopia; initially good BCVA, in late twenties BCVA began to decline, with a more severe drop between the ages of 30y-37y; refraction OD -3.00/-1.25x41, OS -2.50/- 1.00x15; best corrected visual acuity OU 20/32 (30y), OU 20/63 (35y), OU 20/100 (37y); 30y-small central scotoma both eyes correlates with OCT findings, 31y-similar to previous with slight enlargement of affected area; 30y-mild Bull’s eye maculopathy with central macular atrophy and pigmentary changes in fovea and parafovea, attenuated vessels, no peripheral pigmentary changes, no bone-spicule–like pigment; full field ERG 30y-markedly reduced and delayed cone responses with borderline normal rod responses; 35y-further reduction cone function (from 20uV to 7uV) with mild reduction of rod function |
| Diagnosis/Initial |
cone dystrophy, mild rod involvement |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Susanne Roosing |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-02-09 14:03:00 +01:00 (CET) |
| Date last edited |
N/A |
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