Phenotype #0000300846
| Individual ID |
00408727 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right, left eye: light perception, no light perception; ophthalmoscopy: mild optic disk pallor, attenuated vessels, macular and (mid-) peripheral retinal pigment epithelium atrophy with heavy intraretinal bone spicule pigmentations and deep nummular pigmentations; full field electroretinography: not available; optical coherence tomography: cystoid maculopathy progressing into complete loss of outer retinal layers and thinning inner retinal layers at fovea; fundus autofluorescence: not performed; other symptoms: pseudophakia, cataract extraction (age 29), band keratopathy, cystoid macular edema (responsive to subcutaneous octreotide), Morbus Behcet |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
43y (43 years) |
| Age/Diagnosis |
16y |
| Age/Onset |
<20y |
| Phenotype/Onset |
central vision loss, nyctalopia (2nd 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 |
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