Phenotype #0000250604
| Individual ID |
00332419 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
48y-best‐corrected visual acuity counting fingers at 70cm/counting fingers at 20cm ; Goldmann visual fields oculus dexter et sinister large central, absolute scotoma including blind spot, and pericentral visual field, normal peripheral limits with object V4; fundus imaging oculus dexter et sinister fundus virtually normal, except for mild reduction in vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled hyperautofluorescence is more pronounced in circle around central macula; optical coherence tomography oculus dexter et sinister thinning of foveal area with considerable loss of definition of outer retinal layers; full‐field flash electroretinography oculus dexter et sinister moderately reduced rod‐responses to half of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; morbid obesity |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
50y (50 years) |
| Age/Diagnosis |
- |
| Age/Onset |
15y |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-02-19 09:29:42 +01:00 (CET) |
| Date last edited |
N/A |
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