Phenotype #0000250603
| Individual ID |
00269285 |
| Associated disease |
INFM |
| Phenotype details |
53y-best‐corrected visual acuity counting fingers at 50cm/hand movements at 1m; Goldmann visual fields oculus dexter et sinister only preserved inferior caecocentral island with object V4 of Goldmann with severely reduced sensitivity;fundus imaging oculus dexter et sinister severe reduction in vascular caliber, small white dots from the macula up to the midperiphery, relatively better preservation of fovea as well as peripheral retina, and spicular intraretinal pigmentation in nasal midperiphery; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled mixed hypo‐ and limited hyperautofluorescence more pronounced in macular area, better preserved autofluorescence in foveal area immediately surrounded by hypoautofluorescent ring; 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‐fourth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; diabetes mellitus type 2; morbid obesity; oligoasthenoteratospermia |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
CRDHL |
| Age/Examination |
56y (56 years) |
| Age/Diagnosis |
- |
| Age/Onset |
17y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2021-02-19 09:25:59 +01:00 (CET) |
| Date last edited |
2021-02-19 09:28:07 +01:00 (CET) |
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