Choi Se Hyun, Yang Hee Kyung, Hwang Jeong-Min, Park Kyung Seok
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 166, Gumiro, Bundang-gu, Seongnam, Gyeonggi-do, 463-707, Korea.
Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Graefes Arch Clin Exp Ophthalmol. 2016 Jun;254(6):1189-93. doi: 10.1007/s00417-016-3266-5. Epub 2016 Jan 27.
To investigate ocular findings in a Korean population with myotonic dystrophy type 1 (DM1).
A total of 24 Korean patients with DM1, ranging in age from 4 to 71 years, were examined over a period from June 2004 to May 2014. Ophthalmologic examinations including visual acuity assessment, slit-lamp biomicroscopy, ocular motility, cycloplegic refraction, and fundus examination were performed in all patients, and brain magnetic resonance (MR) imaging was performed in 15 patients.
The ocular findings, in order of decreasing prevalence, were as follows: cataract (17 patients, 71 %), myopia (22 eyes, 59 %), hyperopia (13 eyes, 35 %), ptosis (6 patients, 25 %), epiretinal membrane (5 patients, 21 %), exotropia (4 patients, 17 %), ocular motility limitations (4 patients, 17 %), blepharitis (2 patients, 8 %), pigmentary retinopathy (2 patients, 8 %), lid lag (1 patient, 4 %), esotropia (1 patient, 4 %), and myelinated nerve fiber layer (1 patient, 4 %). Five of eight patients (63 %) with CTG repeats ≥ 700 underwent cataract extraction, as did one of 13 patients (8 %) with CTG repeats < 700 (P = 0.014). All four patients who showed limited ocular motility had CTG repeats ≥ 1000. Brain MR imaging showed periventricular white matter lesions in three patients, diffuse brain atrophy in two patients, and extraocular muscle atrophy in two patients.
Korean patients with DM1 showed a high incidence of exotropia in comparison to Caucasian patients with DM1. Our study suggests a possible correlation between the severity of cataract and ocular motility limitation and the size of CTG repeats.
研究1型强直性肌营养不良（DM1）韩国患者的眼部表现。
2004年6月至2014年5月期间，对24例年龄在4至71岁之间的韩国DM1患者进行了检查。所有患者均接受了眼科检查，包括视力评估、裂隙灯生物显微镜检查、眼球运动、睫状肌麻痹验光和眼底检查，15例患者进行了脑磁共振（MR）成像。
眼部表现按患病率递减顺序如下：白内障（17例，71%）、近视（22只眼，59%）、远视（13只眼，35%）、上睑下垂（6例，25%）、视网膜前膜（5例，21%）、外斜视（4例，17%）、眼球运动受限（4例，17%）、睑缘炎（2例，8%）、色素性视网膜病变（2例，8%）、眼睑滞后（1例，4%）、内斜视（1例，4%）和有髓神经纤维层（1例，4%）。CTG重复序列≥700的8例患者中有5例（63%）接受了白内障摘除术，CTG重复序列<700的13例患者中有1例（8%）接受了白内障摘除术（P = 0.014）。所有4例眼球运动受限的患者CTG重复序列≥1000。脑MR成像显示3例患者有脑室周围白质病变，2例患者有弥漫性脑萎缩，2例患者有眼外肌萎缩。
与患有DM1的白种人患者相比，患有DM1的韩国患者外斜视发病率较高。我们的研究表明白内障的严重程度和眼球运动受限与CTG重复序列的大小之间可能存在相关性。
