First Author: I.Ammous TUNISIA
Co Author(s): R. Maalej M. Boukari I. Zhioua Braham I. Mili Boussen K. Errais R. Zhioua
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To report a case of a young woman who presented a bilateral gyrate atrophy of retina and choroid associated with foveoschisis
Gyrate atrophy of choroid and retina is a rare recessive autosomal disease. Vision affection is caused by a metabolic disorder linked to congenital deficit in aminotransferase ornithine. Macular involvements such as cystoid macular edema, epimacular membrane, and choroid neovascularization have been reported in gyrate atrophy.
A case of a 26 years old female complaining of a blurred vision. Best-corrected visual acuity in both eyes was 6/10. Fundus examination revealed multiple bilateral, sharply defined, and scalloped chorio-retinal atrophy areas in the mid-peripheral and peripheral zone.
Spectral-domain optical coherence tomography, showed a cysts in outer retina suggesting the presence of macular edema. Fluorescein angiography in late phase did not show any macular leakage suggesting foveoschisis. The visual field was altered and electrophysiology revealed reduced photoreceptor responses with no recordable scotopic response suggesting gyrate atrophy, confirmed by elevated plasma ornithine test. An arginine-restricted diet with B6 vitamin supplementation was prescribed.
Gyrate atrophy is a recessive autosomal disease affecting the aminotransferase ornithine whose deficiency causes elevation of ornithine. The initial lesion is located on the pigmentary epithelium followed by atrophy of the photoreceptors. Systemic manifestations include rare and fine hair, mental retardation associated with diffuse cerebral atrophy and muscle damage. Ocular involvement may be complicated by cataract, macular edema, epimacular membrane and choroidal neovascularization.