Ahmad Syed S, Ghani Shuaibah A
Department of Ophthalmology, Queen Elizabeth Hospital, Kota Kinabalu, 88586, Malaysia.
Oman J Ophthalmol. 2012 May;5(2):115-7. doi: 10.4103/0974-620X.99377.
Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormalities. So far, only a single case has been reported where a patient with KSS had a normal retina. Herein, we report this extremely rare variant of KSS, which not only presented later than the normal age of presentation, but also had minimal pigmentary retinopathy.
卡恩斯-塞尔综合征(KSS)属于被称为线粒体脑肌病的神经肌肉疾病组。它具有特征性的综合征表现,包括:慢性进行性眼外肌麻痹、双侧非典型色素性视网膜病变和心脏传导异常。到目前为止,仅报道过1例KSS患者视网膜正常的病例。在此,我们报告这种极其罕见的KSS变异型,其不仅发病时间晚于正常发病年龄,而且色素性视网膜病变很轻微。