Clinical Sciences, Florida State University, Tallahassee, Florida, USA.
Clinical Sciences, Florida State University College of Medicine, Tallahassee, Florida, USA.
BMJ Case Rep. 2021 Jul 29;14(7):e242399. doi: 10.1136/bcr-2021-242399.
Isolated optic neuropathy due to folate deficiency is rarely reported. Poor dietary practices, malabsorption, and tobacco/alcohol abuse are usually responsible. We examined a patient with blinding optic neuropathies and isolated folic acid deficiency. Visual acuity recovered after folate replacement. At the same time, serological investigation revealed high ferritin and iron saturation levels with negative genetic markers for haemochromatosis consistent with the diagnosis of iron overload syndrome. There are no reports of blindness associated with iron overload syndrome.
由于叶酸缺乏引起的孤立性视神经病变很少见。不良的饮食行为、吸收不良以及烟草/酒精滥用通常是其病因。我们检查了一位患有致盲性视神经病变和单纯性叶酸缺乏的患者。补充叶酸后视力恢复。同时,血清学检查显示铁蛋白和铁饱和度水平升高,血色病的遗传标志物阴性,符合铁过载综合征的诊断。目前还没有铁过载综合征导致失明的报道。