Abstract

GONZALEZ GOMEZ, Julio César et al. Hyperornithinemia with gyrate atrophy of the choroid and retina. Rev Cubana Oftalmol [online]. 2017, vol.30, n.3, pp.1-6. ISSN 0864-2176.

Gyrate atrophy of the choroid and the retina was first described by Fuchs as a clinically defined condition in 1896. Human hereditary deficiency of ornithine aminotransferase activity is transmitted as an autosomal recessive trait and results in increased level of plasma ornithine and is associated with gyrate atrophy of the choroid and the retina. A 6-year-old girl was taken to the ophthalmologist’s because of her far poor vision detected by her teacher at the school. In the initial eye fundus examination the ophthalmologist observed some changes indicating retinal dystrophy. The indirect binocular funduscopy revealed extensive areas of choroidal atrophy outside the vascular archades respected the posterior pole whereas the macula impressed as normal. Cystoid macular edema was evident in both eyes according to the results of the optic coherence tomography performed with Spectralis tomograph. The aminoacid analysis revealed high serum ornithine level (975 µmol/mL). The clinical diagnosis of the patient was consistent with hyper-ornithinemia and gyrate atrophy of the choroid and the retina. She was treated with vitamin B6 and dietary supplementation but no significant reduction on her serum ornithine level was observed.

Keywords : gyrate atrophy; hyperornithinemia; choroidal dystrophy.

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