Phenotype #0000337193
| Individual ID |
00448004 |
| Associated disease |
- |
| Phenotype details |
see paper; ..., mild dark adaptation problems (some difficulties with driving at night); refraction OD -5.50/-0.75x114, OS -4.50/-1.00x88; best corrected visual acuity OD 20/20, OS 20/20 (47y); Goldmann VF OD and OS relative (peri)central scotoma, periphery intact; pink optic discs, mild attenuation of arterioles, foveal sparing, perifoveal RPE alterations, perimacular lipofuscine depositions, in periphery RPE alterations with a few intraretinal hyperpigmentations; OCT perifoveal ring with abnormal/absent EZ; FAF hyperautoflourescent perifoveal ring, macular region hypoautofluorescent dots, deep hypoautofluorescent areas OS>OD (not present at first visit), perimacular some 'flecks', abnormalities posterior pole seem to have a mild radiant pattern; full field ERG dark adapted responses (isolated rod and mixed), within normal values, light adapted responses (30Hz and single flash) severely reduced; sister diagnosed elsewhere with cone-rod dystrophy, brother diagnosed elsewhere with macular dystrophy, both with severely reduced central vision |
| Diagnosis/Initial |
cone-rod dystrophy |
| 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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