García-Cruz Ignacio, Muñoz-Negrete Francisco José, Benito-Pascual Blanca, Arriola-Villalobos Pedro, Pérez-Bañón María Dolores, Alió Jorge L, Mingo-Botín David
Hospital Universitario Ramón Y Cajal, IRYCIS, Madrid, Spain.
Vissum Miranza, Alicante, Spain.
Graefes Arch Clin Exp Ophthalmol. 2023 Apr;261(4):1109-1114. doi: 10.1007/s00417-022-05875-4. Epub 2022 Nov 4.
Myotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present study investigates the frequency of the different ocular alterations in Spanish patients with DM1 and its relationship with the severity of the genetic alteration.
Cross-sectional and multicenter study was conducted on patients with genetically confirmed DM1. Ophthalmologic examinations included visual acuity assessment, manifest refraction, slit-lamp biomicroscopy, tonometry, ocular motility, corneal tomography, and macular and optic nerve optical coherence tomography.
A total of 42 patients (84 eyes) were included. Mean age was 46.9 ± 13.4 (SD) years, and 57.1% were women. Fifteen patients had undergone cataract surgery in at least one eye (35.7%), and 13 (30.9%) had significant cataract. Mean intraocular pressure (IOP) was 10.5 ± 2.9 mmHg, and mean central corneal thickness (CCT) was 580.04 ± 48.61 μm. Half of the patients had significant ptosis, and 8 patients (9.75%) had undergone eyelid surgery. Macular abnormalities included retinal pigment epithelium alterations in 8 eyes of 6 patients, epiretinal membrane in 3 eyes, and lamellar hole in 2 eyes. A moderate correlation was found between IOP and ptosis with the number of triplet repeats.
Early cataract onset, low IOP, thicker CCT, and ptosis were the most significant manifestations of DM in our sample. Correlation found between IOP and ptosis with CTG repeat could be interesting in order to improve diagnosis and medical care of these patients but should be confirmed in further studies.
1型强直性肌营养不良是成年期最常见的肌营养不良症，由19号染色体q13.3区域的三联体重复序列引起。本研究调查了西班牙DM1患者不同眼部病变的发生率及其与基因改变严重程度的关系。
对基因确诊为DM1的患者进行横断面多中心研究。眼科检查包括视力评估、显验光、裂隙灯生物显微镜检查、眼压测量、眼球运动、角膜地形图以及黄斑和视神经光学相干断层扫描。
共纳入42例患者（84只眼）。平均年龄为46.9±13.4（标准差）岁，女性占57.1%。15例患者至少一只眼接受过白内障手术（35.7%），13例（30.9%）有明显白内障。平均眼压（IOP）为10.5±2.9 mmHg，平均中央角膜厚度（CCT）为580.04±48.61μm。一半的患者有明显上睑下垂，8例患者（9.75%）接受过眼睑手术。黄斑异常包括6例患者8只眼中的视网膜色素上皮改变、3只眼中的视网膜前膜和2只眼中的板层裂孔。发现眼压和上睑下垂与三联体重复次数之间存在中度相关性。
在我们的样本中，白内障早发、低眼压、较厚的中央角膜厚度和上睑下垂是DM最显著的表现。眼压和上睑下垂与CTG重复之间的相关性可能有助于改善这些患者的诊断和医疗护理，但应在进一步研究中得到证实。
