Phenotype #0000308971
| Individual ID |
00417489 |
| Associated disease |
SCRA |
| Phenotype details |
uncorrected visual acuity right, left eye: 20/25+2, 20/20; anterior segmen: unremarkable without anterior polar cataracts; funduscopy: characteristic chorioretinal atrophy lesions radiating from the optic discs; peripapillary choroidal-retinal atrophy was symmetric in both eyes; no signs of macular edema; scanning laser ophthalmoscopy: autofluorescent pattern was consistent with retinal pigment epithelium and choroidal atrophy along the peripapillary region in both eye; autofluorescent hyperdensity along the edge of the chorioretinal degeneration secondary to the retinal pigment epithelium atrophy; optical coherence tomography examination showed only a remaining thin layer of Bruch���������s membrane after retinal pigment epithelium loss, larger choroidal vessels visible through this area devoid of retinal pigment epithelium cells; electroreti |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
atrophy, chorioretinal, Sveinsson (SCRA) |
| Age/Examination |
38y (38 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-18 11:49:32 +02:00 (CEST) |
| Date last edited |
N/A |
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