Fuchs Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy: A Case Series
Fuchs Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy: A Case Series
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DOI：
10.1097/ico.0000000000000018
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发表时间：
2014-01-01
期刊：
影响因子：
2.8
通讯作者：
Jun, Albert S.
中科院分区：
文献类型：
--
作者：
Gattey, Devin;Zhu, Angela Y.;Jun, Albert S.
目的：我们的目的是报告4例富克斯内皮角膜营养不良（FECD）的确诊为强直性肌营养不良（DM）的患者，并提出了一个机制，他们的协会的基础上已知的分子遗传学和潜在的病理生理学平行的DM和FECD.Methods：我们审查了所有可用的医疗记录和病理切片的4例报告的病例，从眼科部在俄勒冈州卫生与科学大学的凯西眼科研究所和Devers眼科研究所在传统的好撒玛利亚医疗中心在波特兰，OR。所有确定的患者均为女性，年龄在34岁至63岁之间，2例患者为亲属（母亲和女儿）。角膜标本从2的4例谁经历了角膜移植病理证实与FECD.Conclusions的诊断是一致的：据我们所知，FECD以前没有报道与DM。由于这两种疾病在美国都很普遍，因此在这些患者中，它们的共存可能只是巧合。然而，最近对每种疾病发病机制的研究表明，FECD和DM之间有更多的相似之处，这表明可能存在非巧合的关联。潜在的相互致病机制可能涉及改变蛋白质表达，导致离子稳态失调，不稳定的内含子三核苷酸重复扩增，或未折叠蛋白质反应和氧化应激途径的激活。
Purpose:The aim was to report 4 cases of Fuchs endothelial corneal dystrophy (FECD) in patients with an established diagnosis of myotonic dystrophy (DM) and suggest a mechanism for their association based on the known molecular genetics and potential pathophysiological parallels of DM and FECD.Methods:We reviewed all available medical records and pathology slides for the 4 reported cases from the Department of Ophthalmology at Oregon Health and Science University's Casey Eye Institute and Devers Eye Institute at the Legacy Good Samaritan Medical Center in Portland, OR.Results:Four patients were found to have DM and bilateral corneal guttae, consistent with the diagnosis of FECD. All the identified patients were female and were aged between 34 and 63, and 2 patients were related (mother and daughter). The corneal specimens from 2 of the 4 patients who had undergone a corneal transplant were pathologically confirmed to be consistent with the diagnosis of FECD.Conclusions:To our knowledge, FECD has not been previously reported in association with DM. Because both diseases are somewhat prevalent in the United States, it is possible that their coexistence is merely a coincidence in these patients. However, recent studies into the pathogenesis of each disease have shown more parallels between FECD and DM, suggesting the possibility of a noncoincidental association. Potential mutual pathogenic mechanisms may involve altered protein expression causing the deregulation of ion homeostasis, an unstable intronic trinucleotide repeat expansion, or activation of the unfolded protein response and oxidative stress pathways.