Document details

Myotonic dystrophy type 1: frequency of ophthalmologic findings

Author(s): Ikeda,Karin Suzete ; Iwabe-Marchese,Cristina ; França Jr,Marcondes Cavalcante ; Nucci,Anamarli ; Carvalho,Keila Monteiro de

Date: 2016

Origin: Oasisbr

Subject(s): myotonic dystrophy type 1; cataract; eyelid ptosis; intraocular pressure; Motor Function Measure scale; Portuguese version


Description

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.

Document Type Journal article
Language English
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