Phenotype #0000300848
| Individual ID |
00408729 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 6/18 (0.48), 6/18 (0.48); ophthalmoscopy: optic disc pallor, attenuated vessels, macular and midperipheral retinal pigment epithelium mottling, minimal pigment spots; full field electroretinography: 20y, severe generalized loss of retinal function; optical coherence tomography: cysts inner nuclear layer, small foveal region of preserved inner segment ellipsoid band; fundus autofluorescence: foveal hyper-autofluorescence surrounded by parafoveal hypo-autofluorescent ring, midperipheral spots of hypo-autofluorescence; other symptoms: posterior subcapsular cataract, cystoid macular ed ma (responsive to carbonic anhydrase inhibitor), learning difficulties |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
27y (27 years) |
| Age/Diagnosis |
20y |
| Age/Onset |
<20y |
| Phenotype/Onset |
nyctalopia (2nd decade), central vision loss, visual field loss |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-26 13:30:15 +02:00 (CEST) |
| Date last edited |
N/A |
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