First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation

Jiovanna Contreras Roura,Zoe Robaina,E Pérez García,Laritza Martínez-Rey,Jc González-Gómez,Ivette Camayd Viera,David Padrón Aurelio

doi:10.23937/ijrdd-2017/1710002

Abstract

First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation

Highlights

Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy
The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26 [1,2,3,4]
The gene is expressed in the neuroretina and in the retinal pigment epithelium (RPE) [5,6,7] and encodes for the mitochondrial and pyridoxal phosphate-dependent enzyme ornithine aminotransferase, which is necessary for the conversion of ornithine into glutamate and proline [8]

Summary

Introduction

Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26 [1,2,3,4]. OAT gene mutations result in hyperornithinemia, typically with a 10-20-fold elevation of plasma ornithine levels [9,10,11,12]. Most patients seem not to be responsive to pyridoxine; a few studies report of pyridoxine-responsive patients presenting with a reduction of ornithine level after pyridoxine substitution [22,23,24]

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