Phenotype #0000304669
| Individual ID |
00412677 |
| Associated disease |
BBS |
| Phenotype details |
absence of intellectual disability and attention-deficit/hyperactivity disorder; best corrected visual acuity right, left eye: 20/40, 20/25; fundus: pale optic disc and no cystoid macular edema bilaterally; bilateral bone-spicule intraretinal pigment migration mainly in the superior and nasal fields, with peripheral retinal atrophy; macular spectral domain optical coherence tomography: peripheral thinning of the retina, affecting mainly the outer nuclear layer, disruption of the ellipsoid zone line in the periphery, while it was conserved in the foveal area; foveal border flattened and enlarged; fundus autofluorescence: peripheral atrophy along with the presence of a hyperautofluorescent ring in the foveal area commonly observed in retinitis pigmentosa patients; scotopic rod-specific and maximal responses full field electroretinogram: undetectable in both eyes; photopic 30 Hz-flicker amplitudes markedly subnormal bilaterally |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
11y (11 years) |
| Age/Diagnosis |
- |
| Age/Onset |
9y |
| Phenotype/Onset |
night vision problems |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-02 09:42:18 +02:00 (CEST) |
| Date last edited |
N/A |
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