上睑下垂、眼肌麻痹和角膜内皮疾病——线粒体疾病的眼部表现
Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.
作者信息
McElnea Elizabeth M, Pick Zelda S, Smyth Aoife C, Stevenson Louis J, McKelvie Penny A, Loughnan Michael S, McNab Alan A
机构信息
Department of Orbit, Plastic and Lacrimal Surgery, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria, Australia.
Department of Anatomical Pathology, St Vincent's Hospital, 41 Victoria Parade, Fitzroy, Victoria, Australia.
出版信息
Am J Ophthalmol Case Rep. 2021 Mar 17;22:101073. doi: 10.1016/j.ajoc.2021.101073. eCollection 2021 Jun.
PURPOSE
To describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation.
OBSERVATIONS
Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient. Pathogenic mutations in the POLG gene which codes for mitochondrial DNA polymerase, tasked with replicating the mitochondrial genome were identified in the second patient.
CONCLUSION
The collection of clinical features present in both cases described can be explained by a diagnosis of mitochondrial disease.
IMPORTANCE
Corneal endothelial disease, in addition to ptosis, ophthalmoplegia, cataract, pigmentary retinopathy and optic atrophy should be recognised as a feature of mitochondrial disease.
目的
描述两名患有双侧上睑下垂、眼肌麻痹、白内障和角膜内皮疾病且需要角膜移植的患者。
观察结果
对两名患者的肌肉活检样本进行组织病理学分析，发现了与线粒体细胞病一致的特征。在第一名患者中检测到单个多基因线粒体脱氧核糖核酸（DNA）缺失。在第二名患者中鉴定出编码线粒体DNA聚合酶的POLG基因中的致病突变，该酶负责复制线粒体基因组。
结论
所描述的这两个病例中出现的临床特征组合可通过线粒体疾病的诊断来解释。
重要性
除上睑下垂、眼肌麻痹、白内障、色素性视网膜病变和视神经萎缩外，角膜内皮疾病也应被视为线粒体疾病的一个特征。
Zotero 插件