Phenotype #0000116691
| Individual ID |
00143913 |
| Associated disease |
- |
| Phenotype details |
visual acuity: R 0.7 L 0.3; refraction R(D) -2.25 L(D) -1.5; lens status: right cateract, left pseudophakia; Goldmann Perimetry: OD 8°, OS 8°; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery; OCT: foveal thinning |
| Diagnosis/Initial |
retinitis pigmentosa |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
20y-30y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Rob W.J. Collin |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2017-11-28 22:45:32 +01:00 (CET) |
| Date last edited |
2020-08-25 10:48:31 +02:00 (CEST) |
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