Phenotype #0000300849
| Individual ID |
00408730 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: 6/12 (0.3), 6/12 (0.3); ophthalmoscopy: optic disc pallor, attenuated vessels, macular retinal pigment epithelium mottling, heavy midperipheral bone spicule pigmentation; full field electroretinography: 39y, findings consistent with RP, report not available ; optical coherence tomography: cysts in inner nuclear layer, centrally preserved outer nuclear layer and inner segment ellipsoid band (disrupted), epiretinal membrane ; fundus autofluorescence: parafoveal spots of hypo-autofluorescence, extensive speckled midperipheral loss of autofluorescence; other symptoms: cataract, cystoid macular edema (responsive to carbonic anhydrase inhibitor) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
63y (63 years) |
| Age/Diagnosis |
39y |
| Age/Onset |
<40y |
| Phenotype/Onset |
nyctalopia, peripheral field loss, (start 4th decade) |
| 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
