Phenotype #0000309022
| Individual ID |
00417542 |
| Associated disease |
GACR;OATD |
| Phenotype details |
40y: visual acuity right, left eye: 20/40, 20/200; mild to moderate cataracts and maculopathy, both worse in the left eye; visual fields constricted to approximately 70deg of remaining field, measured horizontally; severity of disease was mild to moderate clinically; classified as a B6 nonresponder both by failure of serum ornithine levels to decrease after oral pyridoxine supplementation and by failure of pyridoxal phosphate to increase ornithine anminotransferase activity in vitro; clinical characteristics of the patient have been described in detail elsewhere (patient 4 of Weleber et al. [1982] and Weleber and Kennaway [1988]) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) |
| Age/Examination |
40y (40 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 |
2022-09-19 13:40:29 +02:00 (CEST) |
| Date last edited |
N/A |
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