Guan Wenxue, Wang Ge, Hu Feng, Peng Xiaoyan
Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Capital Medical University, 100005, Beijing, China.
BMC Ophthalmol. 2021 Feb 18;21(1):93. 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.
报告1例经基因确诊的脉络膜和视网膜回旋状萎缩（GA）患者，其在补充维生素B6治疗后黄斑劈裂部分消退。
一名6岁中国女孩主诉双眼夜盲及视力进行性下降。其最佳矫正视力（BCVA）右眼为20/63，左眼为20/100。眼底检查显示双眼眼底中周部和周边部有多个边界清晰的扇贝形脉络膜视网膜萎缩区。频域光学相干断层扫描（SD-OCT）显示双眼黄斑中心厚度（CMT）增加，视网膜内有多个囊腔。荧光素血管造影（FA）晚期黄斑区无渗漏或染色。血液检查证实高鸟氨酸血症，基因分析显示鸟氨酸转氨酶（OAT）基因有两个杂合突变。根据临床表现和基因检测，该患者被诊断为脉络膜和视网膜GA，并进一步接受维生素B6补充治疗3周。其血清鸟氨酸水平未改变，但SD-OCT显示CMT下降，视网膜内囊腔部分消退。随后，患者因严重肌肉疼痛停药，1个月后黄斑劈裂增加至初始水平。
黄斑劈裂是GA的一种罕见并发症。补充维生素B6可能减轻黄斑劈裂，但其降低血清鸟氨酸水平的作用可能有限。儿科患者应注意潜在的药物不良反应。
