Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl

• Published in: BMC ophthalmology Vol. 21; no. 1; p. 93
• Main Authors: Guan, Wenxue, Wang, Ge, Hu, Feng, Peng, Xiaoyan
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 18.02.2021; BioMed Central; BMC
• Subjects: Acuity; Angiography; Atrophy; Atrophy - pathology; Blindness; Blood; Case Report; Case reports; Child; Children; China; Choroid - pathology; Dietary restrictions; Drug side‐effect; Edema; Female; Fluorescein; Fluorescein Angiography; Foveoschisis; Genetic analysis; Genetic screening; Gyrate atrophy; Gyrate Atrophy - drug therapy; Health aspects; Humans; Medical examination; Metabolism; Muscle pain; Mutation; Nyctalopia; Ophthalmology; Optics; Ornithine-aminotransferase; Patients; Pediatrics; Pharmaceutical Preparations; Plasma; Proteins; Retina; Supplements; Tomography; Tomography, Optical Coherence; Visual Acuity; Vitamin B 6; Vitamin B6; Vitamins; China; Beijing China; Gyrate atrophy; Drug side‐effect; Foveoschisis; Vitamin B6
• ISSN: 1471-2415; 1471-2415
• DOI: 10.1186/s12886-021-01862-1

To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy. A 6-year-old Chinese girl complained about night blindness and progressive decreased vision in both eyes. Her best corrected visual acuity (BCVA) was 20/63 OD and 20/100 OS. Fundus examination showed bilateral multiple, sharply demarcated, scallop-shaped chorioretinal atrophy areas in the midperipheral and peripheral of the fundus. Spectral domain optical coherence tomography (SD-OCT) showed increased central macular thickness (CMT) with multiple intraretinal cystic spaces in the both eyes. There was no leakage or staining in the macular area in late phase of fluorescein angiography (FA). Blood tests confirmed hyperornithinemia and genetic analysis revealed two heterozygous mutations on ornithine aminotransferase (OAT) gene. Based on clinical presentation and genetic test, the patient was diagnosed as GA of the choroid and retina and further treated with vitamin B6 supplementary for three weeks. Her serum ornithine levels did not change but CMT on SD-OCT declined with partial regression of intraretinal cystic spaces. Then, the patient discontinued the drug because of severe muscle pain, and foveoschisis increased to initial level a month later. Foveoschisis is a rare complication of GA. Vitamin B6 supplementation may alleviate foveoschisis, but its effort for reducing serum ornithine level might be limited. Potential drug adverse effects should be noted in pediatric patients.