揭示了与罕见的维生素A缺乏症相关的夜盲症
Avadhesh Oli1, Sujata Upadhyay2, Agrima Bhatia3
1Department of Ophthalmology, Command Hospital (Air Force) Bangalore, India.
Romanian journal of ophthalmology
|February 12, 2025
概括
本案例报告强调了一种与维生素A缺乏相关的罕见Mizuo现象呈现. 早期诊断使用修改补丁测试对于管理这种情况至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 营养科学 营养科学
- 遗传学 遗传学 是一个
背景情况:
- 弥苏现象,其特点是 fundus 中的金属光泽在黑暗适应后消失,通常与 Oguchi 疾病有关.
- 维生素A缺乏会导致各种眼部表现,包括眼和眼睛干燥.
研究的目的:
- 报告一例罕见的Mizuo现象,该现象发生在维生素A缺乏症患者身上.
- 调查这种表现的潜在原因和诊断特征.
主要方法:
- 一名38岁的男性患有酒精性肝病,并怀疑患有奥古奇病,呈现出近视和眼睛干燥.
- 进行了临床检查,修改暗适应试验,光谱域光学连贯性断层扫描 (SD-OCT),短波自发光,电网膜扫描 (ERG) 和电眼扫描 (EOG).
- 评估了SAG和GRK1突变和血清维生素A水平的遗传测试.
主要成果:
- 修改后的黑暗适应测试表明了Mizuo现象.
- SD-OCT显示了外视网膜稀疏和高反射分泌物,而短波自发光检测显示了相应的超自发光斑.
- ERG是正常的,但EOG显示阿登比率显著下降.
- 血清维生素A水平明显低,尽管服用补充剂,但仍然很低. 对Oguchi疾病的遗传测试是负的.
结论:
- 这是一个罕见的案例,可能是第一个与维生素A缺乏相关的Mizu现象,呈现正常ERG和异常EOG.
- 修改后的贴片试验有助于早期诊断.
- 需要进行进一步的研究,以将维生素A水平与Mizuo现象和多式成像检测结果相关联.
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