| Individual ID |
00407824 |
| Associated disease |
- |
| Phenotype details |
6y: best corrected visual acuity right/left eye: (VA) 1.0 / 1.3, refractive error: of +1.25 / +1.0; fundus: diffuse retinopathy with pigment clumping and bone spiculae pigmentation, cystoid macular edema and attenuated blood vessels with mild optic atrophy in both eyes; 15y: vision stable; visual field: constricted to about 5deg in diameter in both eyes with a thin peripheral almost circumferential island in his right eye; electroretinogram: not recordable above noise for all tested stimuli at 15y; VA improved slightly to 0.7logMAR using both eyes, under oral treatment with carbonic anhydrase inhibitor for the management of his macular edema, lost the remaining peripheral field; 19y: horizontal and vertical nystagmus; 21y: stable, fundus: atrophic macular changes, optic atrophy and bone spiculae pigmentation in both eyes |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Leber congenital amaurosis/early-onset severe retinal dystrophy |
| Age/Examination |
- |
| Age/Diagnosis |
2y |
| Age/Onset |
- |
| Phenotype/Onset |
abnormal night vision and restricted side vision |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-09 17:22:07 +02:00 (CEST) |
| Date last edited |
N/A |
