Title

DIAGNOSIS AND TREATMENT OF GYRATE ATROPHY: A CASE REPORT

Introduction

Gyrate Atrophy is a rare autossomal recessive genetic disorder. It`s characterized by early onset in childhood. Fundus exam reveals characteristic circular lesions with well-defined borders that initiate at the peripheral fundus and progresses centripetally. Patients usually presents early axial myopia, cataract (posterior subcapsular cataract, most frequently) and nyctalopia. Continuous visual loss is correlated to coalescence of the atrophic lesions as the disease progresses. Advanced stage occurs with macular involvement, generally because of cystoid macular edema, epiretinal membrane and choroid neovascularization. Biochemically it is defined by a lack of ornithine-delta-aminotransferase enzyme, which courses with high systemic ornithine levels.

Methods

A 20-year-old woman presented with progressive visual loss since childhood. Visual acuity was 20/250 OD and 20/80 OS. Biomicroscopy highlighted posterior pole cataract in both eyes (OU). Fundus exam reveals abnormal reflectivity of the macular surface, ghost vessels and sharply demarcated circular areas of chorioretinal atrophy with hyperpigmented margins in periphery in both eyes and a macular hole OS. Optical Coherence Tomography (OCT) demonstrated epiretinal membrane in OU and confirmed a macular hole OS. Gyrate Atrophy diagnosis was suggested and treatment with dorzolamide hydrochloride was initiated with no response. Thus, Anti-VEGF was indicated.

Results

Not Apply

Discussion

Ornithine-delta-aminotransferase enzyme (OAT) is expressed among several tissues. At the retina, high levels of ornithine and its metabolites leads to degeneration of photoreceptors and chorioretinal atrophy. As the disease progresses the ophthalmologic exam allied with fluorescein angiography and OCT are helpful to diagnose and manage it. Even though early diagnosis is not easy to achieve, it is very important to stop progression, as some patients can respond to supplementation of pyridoxine (B6) and diet restriction of arginine.

Keywords

Gyrate Atrophy; Genetic Diseases;

Area

CLINICAL CASE

Authors

ALLAN GOMES DA SILVA, PHILIPE FRANCO DO AMARAL TAFNER, FABIANA JALLAD SALLUM, GABRIEL CASTILHO SANDOVAL BARBOSA, JULIA DE ÁVILA FOWLER, DEBORAH DOS SANTOS MUSICH, PRISCILA NASCIMENTO HESS, JULIO ZAKI ABUCHAM NETO