Paulus Yannis M, Wenick Adam S
Retina Division, Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland.
Retin Cases Brief Rep. 2016 Summer;10(3):236-8. doi: 10.1097/ICB.0000000000000239.
BACKGROUND/PURPOSE: To report a novel ophthalmic finding of the development of chronic subretinal fluid in a patient with Kearns-Sayre syndrome.
An observational case report with funduscopic, angiographic, neurophysiologic, and optical coherence tomographic correlation.
An 11-year-old male with bilateral hearing loss, cerebellar dysfunction, short stature, low weight, ptosis, external ophthalmoplegia, and pigmentary retinopathy of both eyes developed chronic subretinal fluid below the central macula. This fluid has remained for more than 1.5 years. Genetic testing revealed a heteroplasmic 7,797 base pair mitochondrial deletion (m. 7638-1543del7797).
The authors report a novel physical finding of subfoveal fluid in a patient with Kearns-Sayre syndrome. The pathophysiologic etiology of this fluid and its localization to the subfoveal retina remains unclear. Patients with pigmentary retinopathy related to mitochondrial disorders should be monitored for the development of subretinal fluid, which can contribute to vision loss.
背景/目的：报告1例患有卡恩斯-塞尔综合征（Kearns-Sayre syndrome）的患者出现慢性视网膜下液这一新颖的眼科发现。
一份包含眼底镜检查、血管造影、神经生理学检查及光学相干断层扫描相关性的观察性病例报告。
一名11岁男性，患有双侧听力丧失、小脑功能障碍、身材矮小、体重偏低、上睑下垂、眼球外肌麻痹及双眼色素性视网膜病变，在黄斑中心下方出现慢性视网膜下液。该液体已持续超过1.5年。基因检测显示存在一个7797个碱基对的异质性线粒体缺失（m. 7638-1543del7797）。
作者报告了1例患有卡恩斯-塞尔综合征的患者出现黄斑下液这一新颖的体格检查发现。这种液体的病理生理病因及其在黄斑下视网膜的定位仍不清楚。对于与线粒体疾病相关的色素性视网膜病变患者，应监测视网膜下液的发生情况，其可能导致视力丧失。
