PURPOSE: To report a case of gyrate atrophy confirmed by biochemical blood analysis. METHODS: Best corrected visual acuity was evaluated. Biomicroscopy of the anterior segment, indirect ophthalmoscopy, fluorescein angiography and computerized visual fields were performed. Color vision was assessed and plasma ornithine level was determined. RESULTS: 22-year-old white female with high myopia, visual acuity of 20/100 in both eyes. Biomicroscopy showed posterior subcapsular cataract in both eyes. Retinography showed well-delineated atrophic lesions of the choroid and retina in the mid-periphery and around the optic nerve in both eyes. Blood aminoacid determination showed high levels of ornithine. CONCLUSION: We describe here a typical case of girate atrophy of the retina and choroid, a rare disease associated with high levels of plasma ornithine.
Gyrate atrophy; Choroid; Retina; Choroideremia
