Gyrate atrophy
From Descipher Health
Description:
| Table of contents |
Synonyms
ornithine keto-acid aminotransferase deficiency, OAT deficiency
Cause
Genetically inherited mutation in chromosome 10Population Distribution
Effects
Symptoms
GA manifests by taking the form of regular myopia early in life, it is followed by night blindness, cataracts and progressive constrictions of the visual field that lead to blindness in the fourth or fifth decade of life. Additional abnormalities may include muscular weakness, thin and sparse hair and mental retardation.
Signs
Diagnostic Tests
Differential Diagnosis
Treatment
Admission of vitamin B6, and introduction to low protein diet, especially in arginine.
Expected Outcome
Only 5% of GA patients are responsive to B6 administration. Not all patients are able to follow the highly restrictive diet, therefore treatement is uncertain.
Prevention
Early discovery of the disease and frequent visits to the optometrist could prevent the chorioretinal degeneration.
