Phenotype #0000250598
| Individual ID |
00269283 |
| Associated disease |
CRDHL |
| Diagnosis/Initial |
cone-rod dystrophy, hearing loss, reduced male fertility |
| Diagnosis/Definite |
CRDHL |
| Phenotype details |
best‐corrected visual acuity hand movements at 1m/hand movements at 1m; Goldmann visual fields oculus dexter et sinister moderately constricted peripheral limits, extensive central, absolute scotoma; fundus imaging oculus dexter et sinister limited outer retinal atrophy in macula up to area nasal to optic disc, severely reduced vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse hypo‐ and hyperautofluorescence; hyperautofluorescent ring around central macula, mottled hypoautofluorescence of retina nasal to optic disc; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐tenth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
57y (57 years) |
| Age/Diagnosis |
- |
| Age/Onset |
20y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2021-02-19 08:48:10 +01:00 (CET) |
| Date last edited |
2021-02-19 09:13:38 +01:00 (CET) |
|
