A case of foveoschisis associated with ornithine aminotransferase defficiency and gyrate atrophy | Journal of College of Physicians and Surgeons--Pakistan : JCPSP 2021

Author(s)

Sehnaz Ozcaliskan Department of Ophthalmology, University of Health Sciences, Beyoglu Eye Traininig and Research Hospital, Bereketzade, Bereketzade Cami Sk. No: 2, 34421 Beyoğlu/İstanbul, Turkey

Sevcan Balci Department of Ophthalmology, University of Health Sciences, Haydarpasa Numune Traininig and Research Hospital,0stanbul,Turkey

Ozgur Artunay Department of Ophthalmology, University of Health Sciences, Beyoglu Eye Traininig and Research Hospital, Bereketzade, Bereketzade Cami Sk. No: 2, 34421 Beyoğlu/İstanbul, Turkey

Abstract

Gyrate atrophy is a metabolic disorder characterised by typical progressive circular chorioretinal atrophy, myopia and early developmental cataract. The disease is caused by de ciency of ornithine aminotransferase (OAT) enzyme. Although OAT is expressed in most tissues of the body, but the main target of the disease appears to be the retina. A case is presented here of a 21-year woman, who came to our clinic with the complaint of decline in central vision for eight months. She had progressive poor night vision and was diagnosed with OAT de ciency ve years ago. Her systemic history was unremarkable, except for femoral deep vein thrombosis (DVT) which occurred two years ago. Laboratory tests performed at that time had revealed elevated serum ornithine and low serum lysin levels. Optic coherence tomography (OCT) scans showed foveoschisis bilaterally. In summary, gyrate atrophy may present as macular involvement in the form of foveoschisis and may lead to impaired central vision.

Publication Details

Page(s) 1354-1356

DOI 10.29271/jcpsp.2021.11.1354

Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 31, Issue: 11, Year: 2021

Keywords

Ornithine aminotransferase Foveoschisis Gyrate atrophy

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