A Rare Association of Foveoschisis with Gyrate Atrophy

Abstract

Case Description A 17 year-old female patient presented with complaints of sudden decrease in vision and central scotoma in both eyes, along with progressive night vision deterioration over the past several years. The patient’s visual acuities were 20/100 with -2.00 spherical diopters (D) in the right eye and 20/80 with -2.50 spherical D in the left eye. Fundus examination of the patient demonstrated multiple bilateral, sharply defined, and scalloped areas of chorioretinal atrophy in the mid-peripheral zones (Figures 1&2). Fundus fluorescein angiography did not show any leakage even in late phases in both the eyes. The wide-field OCT scans of both eyes disclosed increased central macular thicknesses with widespread hyporeflective spaces separated by multiple linear bridging elements in the inner nuclear and inner plexiform layers, in addition to retinal defects at outer nuclear and outer plexiform layers. Moreover, elevated level of plasma ornithine (967 Mmol/L) was detected, establishing the diagnosis of Gyrate Atrophy (GA). Gyrate atrophy of the choroid and retina is a rare, genetically determined, autosomal recessive metabolic disorder characterized by multiple, sharply demarcated, circular or oval areas of chorioretinal atrophy in the mid-periphery of the fundus, which are initially separate and later become confluent with increasing age1. Macular involvement has been reported in this disease and includes cystoid macular edema, epimacular membrane, macular hole, and choroidal neovascularization.2-4 Foveoschisis refers to splitting of the neurosensory retina, and is usually noted in highly myopic patients, Goldman-Favre Syndrome, and those with X-linked retinoschisis.5 However, the association of foveoschisis with gyrate atrophy is very rare. Herein, we report a 17 year-old female with an unusual appearance on fundus photography and Spectralis optical coherence tomography (OCT): bilateral GA concomitant with foveoschisis. (Figure 3 & 4) In this patient, examination revealed no specific findings such as optic pits, myopic degeneration with staphyloma, or vitreoretinal traction, and we presume that the foveoschisis might have been triggered by GA. Delhi J Ophthalmol 2017;28;58-9; Doi; http://dx.doi.org/10.7869/djo.295