Phenotype #0000299388
| Individual ID |
00407000 |
| Associated disease |
- |
| Phenotype details |
6y: best corrected visual acuity right, left eye: 7/200, 20/400, 25y: light perception both eyes; high hyperopic refractive error (+10.00 sphere); nystagmus, no corneal or lenticular opacities, funduscopy: retina-wide granular-appearing pigmentary disturbances and optic disc drusen in both eyes; fundus using NIR reflectance imaging: a light appearance with visibility of the choroid, suggesting depigmentation of retinal pigment epithelium; NIR-AF: choroidal-appearing pattern; specifically there was no evidence of a central region of hyperautofluorescence or peripheral boundary to a relatively increased signal, evident optic disc drusen, hyperautofluorescence under NIR excitation; kinetic perimetry: only a central island of perception in each eye of roughly 2���3 degrees in diameter using an achromatic target (size V, but 1 log unit brighter than the kinetic perimeter 4e) in the dark-adapted state, thresholds were elevated by >5.5 l |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Leber congenital amaurosi |
| Age/Examination |
25y (25 years) |
| Age/Diagnosis |
- |
| Age/Onset |
6m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-05 17:42:08 +02:00 (CEST) |
| Date last edited |
N/A |
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