title: Myotonic dystrophy type 1: frequency of ophthalmologic findings.
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.
authors.affiliation: Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Karin Suzete
authors.initials: KS
authors.lastname: Ikeda
authors.affiliation: Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Cristina
authors.initials: C
authors.lastname: Iwabe-Marchese
authors.affiliation: Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Marcondes Cavalcante
authors.initials: MC
authors.lastname: França
authors.affiliation: Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Anamarli
authors.initials: A
authors.lastname: Nucci
authors.affiliation: Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Keila Monteiro de
authors.initials: KM
authors.lastname: Carvalho
mesh_terms: D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000209:etiology* / Q000503:physiopathology; D002386:Cataract / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007429:Intraocular Pressure / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications* / Q000503:physiopathology