Girate atrophy: clinical and functional features

Abstract

Gyrate atrophy is a rare genetic metabolic disease with an autosomal recessive inheritance that causes progressive chorioretinal atrophy, fundus manifestations, and decreased visual function. The prognosis of the disease largely depends on the development and progression of complications (macular changes and cataracts) as well as concomitant neurological and somatic pathology. AIM: To describe three clinical cases of hypertension. MATERIAL AND METHODS: We examined three children with gyrate atrophy at 4, 10, and 15 years old. All patients underwent a comprehensive ophthalmological examination, including modern diagnostics, visualization, and electrophysiological studies. RESULTS: Although older patients have more pronounced changes in the fundus with involvement of the macular zone in the pathological process, a 4-year-old child has pronounced functional retinal disorders detected during electroretinogram registration, indicating an earlier manifestation of the pathological process. Gyrate atrophy was combined with foveoschisis and ornithinemia in older patients (10 and 15 years old). The differential diagnosis of gyrate atrophy should be carried out with high myopia with areas of dystrophy of the cobblestone pavement type on the periphery of the fundus, resembling foci of chorioretinal changes in hypertension. CONCLUSION: Patients with gyrate atrophy require an interdisciplinary approach that includes not only ophthalmologists but also pediatricians, medical geneticists, and other specialists with comorbidities.