Phenotype #0000234839
| Individual ID |
00309519 |
| Associated disease |
? |
| Diagnosis/Initial |
intellectual disability, retinitis pigmentosa |
| Diagnosis/Definite |
IDDRP |
| Phenotype details |
28y: best corrected visual acuity right/left eye: 0.4 / 0.5; full field electroretinography, light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: not done; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation; additional ocular findings: subcapsular posterior cataract subcapsular posterior cataract both eyes, rotational fixation nystagmus both eyes, high myopia, mild astigmatism; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder, alopecia areata; 34y: best corrected visual acuity right/left eye: 0.3 / 0.4 |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| 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 |
2020-08-28 14:59:51 +02:00 (CEST) |
| Date last edited |
2022-07-01 20:10:35 +02:00 (CEST) |
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