Clinical and genetic investigation of amantadine-associated corneal edema.
Clinical and genetic investigation of amantadine-associated corneal edema.
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DOI：
10.2147/opth.s166384
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发表时间：
2018
期刊：
影响因子：
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通讯作者：
Eghrari AO
中科院分区：
文献类型：
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作者：
Hessen MM;Vahedi S;Khoo CT;Vakili G;Eghrari AO
在一系列病例中，金刚烷胺的使用与双侧角膜水肿有时间相关性;然而，其病理生理机制尚未阐明。我们试图排除亚临床Fuchs营养不良作为一个贡献者，其特点的模式角膜水肿，并描述了长期的结果，同时局部类固醇，恢复金刚烷胺。一名44岁女性出现新发急性双侧角膜水肿后，停用金刚烷胺，临床症状改善。然而，神经失代偿需要重新开始金刚烷胺，她与局部氯替泼诺同时进行。为了确定亚临床Fuchs营养不良是否可能存在，进行三联体引发聚合酶链反应以测量TCF 4中CTG18.1三核苷酸重复的拷贝数。进行镜面反射显微镜和Scheimpflug成像，并随访32个月，以评估分辨率和稳定性。进行文献综述以评估临床表型的一致性。停用金刚烷胺后4周，角膜水肿临床消退。连续Scheimpflug成像显示后部和中央角膜水肿消退，角膜内皮显微镜检查显示细胞内混浊伴内皮细胞密度丧失。尽管恢复金刚烷胺，Scheimpflug成像和角膜内皮显微镜测量在32个月时保持稳定。TCF 4中CTG18.1的三重引物PCR显示没有三核苷酸重复扩增。金刚烷胺相关性角膜水肿的特征是后部和中央，似乎不太可能代表Fuchs营养不良的早期或亚临床失代偿。我们描述了在重新开始使用金刚烷胺和类固醇后持续角膜清除的独特结果，这种模式至今已持续了32个月。
Amantadine use has been temporally associated with bilateral corneal edema in a series of cases; however, its pathophysiological mechanisms have yet to be elucidated. We sought to rule out subclinical Fuchs dystrophy as a contributor, characterize its pattern of corneal edema, and describe the long-term outcome of concurrent topical steroids while resuming amantadine. After a 44-year-old woman presented with new acute onset bilateral corneal edema, amantadine was discontinued, with clinical improvement. However, neurological decompensation required restarting amantadine, which she did concurrently with topical loteprednol. To determine whether subclinical Fuchs dystrophy might be present, triplet-primed polymerase chain reaction was conducted to measure copy number of the CTG18.1 trinucleotide repeat in TCF4. Specular microscopy and Scheimpflug imaging were conducted and followed for 32 months to assess for resolution and stability. Literature review was conducted to assess for consistency of the clinical phenotype. Corneal edema resolved clinically 4 weeks after discontinuation of amantadine. Serial Scheimpflug imaging demonstrated resolution of posterior and central corneal edema and specular microscopy revealed intracellular opacities with loss of endothelial cell density. Despite resuming amantadine, Scheimpflug imaging and specular microscopy measurements remained stable at 32 months. Triplet-primed PCR of CTG18.1 in TCF4 revealed no trinucleotide repeat expansion. Amantadine-associated corneal edema is characteristically posterior and central and appears unlikely to represent early or subclinical decompensation of Fuchs dystrophy. We describe the unique outcome of continued corneal clearance after restarting amantadine concurrently with steroids, a pattern that has persisted over 32 months to date.