Department of Ophthalmology, 'Lozano Blesa' University Clinic Hospital, Zaragoza, Spain.
Clin Exp Ophthalmol. 2010 Nov;38(8):812-6. doi: 10.1111/j.1442-9071.2010.02335.x.
We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns-Sayre syndrome who developed a maculopathy resembling an adult-onset vitelliform macular dystrophy in her right eye. DNA analysis identified the presence of multiple deletions in the mtDNA of the muscle sample, with the common deletion of 4977 bp the most abundant. To the best of our knowledge, there have been no previous reports of such macular lesion occurring in association with Kearns-Sayre syndrome.
我们报告了一例 48 岁女性，临床和组织病理学确诊为 Kearns-Sayre 综合征，其右眼出现类似于成人发病型卵黄样黄斑营养不良的黄斑病变。DNA 分析显示肌肉样本中线粒体 DNA 存在多处缺失，最常见的是 4977bp 的缺失。据我们所知，此前尚无 Kearns-Sayre 综合征伴发此类黄斑病变的报道。
