Kozak Igor, Oystreck Darren T, Abu-Amero Khaled K, Nowilaty Sawsan R, Alkhalidi Hisham, Elkhamary Sahar M, Mohamed Sarar, Hamad Muddathir H A, Salih Mustafa A, Blakely Emma L, Taylor Robert W, Bosley Thomas M
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Retin Cases Brief Rep. 2018;12(4):349-358. doi: 10.1097/ICB.0000000000000503.
To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings.
Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation.
The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally. Muscle biopsy in two of the cases revealed mitochondrial myopathy. All three had abnormal findings on neuroimaging and modestly reduced visual acuity in both eyes with a variable pigmentary retinopathy. One of the patients had bilateral subretinal fibrosis with a full-thickness macular hole in the right eye. All three patients had single, large-scale mitochondrial DNA (mtDNA) deletions (5.0-7.6 kb in size) with blood mtDNA heteroplasmy levels ranging from below 20% to 57%. Severity of pigmentary retinopathy did not correlate with severity of progressive external ophthalmoplegia, but did correspond grossly with electroretinographic abnormalities, just as the degree of ocular motility restriction and ptosis in each patient correlated with the size of their extraocular muscles on neuroimaging. In addition, the size of the single, large-scale mtDNA deletion and level of mtDNA heteroplasmy corresponded with degree of ocular motility restriction but not with severity of retinopathy.
Subretinal fibrosis and macular hole are novel retinal observations which expand clinical profile in Kearns-Sayre syndrome. Genetic testing for mtDNA deletions and heteroplasmy in blood, muscle biopsy, careful ocular and retinal examination including electroretinography, and imaging are indispensable tests for this condition.
报告凯-赛综合征（Kearns-Sayre syndrome）的新型视网膜病变，并将视网膜病变程度与其他临床发现相关联。
对来自沙特阿拉伯的患者进行观察性病例系列研究，包括视网膜和神经眼科检查、病历回顾以及线粒体基因评估。
这三名无血缘关系的患者均出现双侧进行性眼外肌麻痹和色素性视网膜病变。其中两例患者的肌肉活检显示有线粒体肌病。所有三例患者的神经影像学检查均有异常发现，双眼视力均有适度下降，伴有不同程度的色素性视网膜病变。其中一名患者双侧视网膜下纤维化，右眼有全层黄斑裂孔。所有三名患者均存在单个大规模线粒体DNA（mtDNA）缺失（大小为5.0 - 7.6 kb），血液mtDNA异质性水平在20%以下至57%之间。色素性视网膜病变的严重程度与进行性眼外肌麻痹的严重程度无关，但与视网膜电图异常大致相符，正如每位患者的眼球运动受限程度和上睑下垂与神经影像学检查中眼外肌大小相关一样。此外，单个大规模mtDNA缺失的大小和mtDNA异质性水平与眼球运动受限程度相关，但与视网膜病变的严重程度无关。
视网膜下纤维化和黄斑裂孔是凯-赛综合征中扩展临床特征的新型视网膜观察结果。血液中mtDNA缺失和异质性的基因检测、肌肉活检、包括视网膜电图在内的仔细眼部和视网膜检查以及影像学检查是诊断该疾病不可或缺的检查。
