Phenotype #0000301214
| Individual ID |
00409099 |
| Associated disease |
- |
| Phenotype details |
night blindness (16 y), field constriction (20 y), progressive loss of visual acuity (22 y), color deficiencies, glare sensitivity (22 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: light perception-light perception; refractive error: +5.0/+5.0; visual field: absolute scotoma; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment: subcapsular cataract, exotropia, pale optic disc, narrowed vessels, dense bone spicule and spotty hyperpigmentations covering the entire retina, even within the vascular arcades, macular with dense hyperpigmentation and underlying chorioretinal atrophy |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
42y (42 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-30 20:17:24 +02:00 (CEST) |
| Date last edited |
N/A |
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