1型强直性肌营养不良：眼科检查结果的发生率

Myotonic dystrophy type 1: frequency of ophthalmologic findings.

作者信息

Ikeda Karin Suzete, Iwabe-Marchese Cristina, França Marcondes Cavalcante, Nucci Anamarli, Carvalho Keila Monteiro de

机构信息

Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.

Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.

出版信息

Arq Neuropsiquiatr. 2016 Mar;74(3):183-8. doi: 10.1590/0004-282X20150218.

DOI:10.1590/0004-282X20150218

PMID:27050845

Abstract

The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP). Method Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol. Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed. Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.

摘要

本研究的目的是评估1型强直性肌营养不良（DM1）患者队列中眼科异常的发生率，并将其与运动功能相关联。我们回顾了白内障和低眼压（IOP）的病理生理学。方法在临床和实验室诊断后以及签署知情同意书后纳入患者。他们通过运动功能测量量表葡萄牙语版（MFM-P）和眼科检查方案进行评估。结果我们评估了42例年龄在17至64岁（平均40.7±12.5）的患者，其中22例为男性。除1例患者外，其余所有患者的眼压（n = 41）均降低。我们发现38例（90.48%）有白内障或手术阳性，23例（54.76%）有上睑下垂。这些体征而非眼压与运动功能障碍的严重程度显著相关。观察到眼球运动和立体视觉异常。结论白内障和上睑下垂在DM1中很常见，且与运动功能障碍相关。眼压降低也很常见，但似乎与运动障碍无关。