Phenotype #0000300847
| Individual ID |
00408728 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 6/18 (0.48), 6/12 (0.3); ophthalmoscopy: optic disc pallor, attenuated vessels, macular and midperipheral retinal pigment epithelium mottling and occasional hyperpigmented spots; full field electroretinography: 8y, findings of marked rod system dysfunction with cone system dysfunction right eye>left eye; marked macular involvement right eye; optical coherence tomography: cysts in inner nuclear layer right eye<left eye, centrally preserved inner segment ellipsoid band and outer nuclear layers right eye<left eye; fundus autofluorescence: parafoveal hyper-autofluorescent ring larger on left eye, right eye additional ring of hypoautofluorescence surrounding this in macula, midperipheral spots of hypo-autofluorescence; other symptoms: posterior subcapsular cataract, cystoid macular ed ma (responsive to topica carbonic anhydrase inhibitor), right amblyopia, right secondary exotropia |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
24y (24 years) |
| Age/Diagnosis |
9y |
| Age/Onset |
9y |
| Phenotype/Onset |
nyctalopia (age 9) |
| 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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