RETINAL DYSTROPHIES AND SYNDROMES
Gyrate atrophy is a generalized choroidal dystrophy, inherited as an autosomal recessive disease. Patients with this condition have high levels of ornithine in their plasma due to a genetic deficiency of ornithine aminotransferase
The gene coding for this enzyme has been trace to chromosome 10. Different mutations in the gene have been identified, including missense, nonsense, and frameshift mutations. Molecular defects in the pyridoxine-responsive and pyridoxine-unresponsive gene are different, and have prognostic and therapeutic implications.
Symptoms at onset are difficulty in adapting to the dark and loss of peripheral vision (similar to those of retinitis pigmentosa) since the disease initially affects the midperiphery of the retina. The fundus findings are quite unique and, typically a diagnosis can be...