Title

MYOTONIC DYSTROPHY TYPE 1: A DISEASE WITH MULTIPLES OPHTHALMOLOGIC FINDINGS

Introduction

Several ocular abnormalities have been documented to occur in patients with myotonic dystrophy type 1(DM1). The purpose of the study was to evaluate the frequency of these abnormalities and to alert the importance of multidisciplinary for better patient follow-up.

Methods

All participants underwent a thorough ophthalmologic examination, including visual acuity assessment, slit-lamp biomicroscopy, ocular motility, dynamic refraction, and fundus examination in addition to optical coherence tomography, a complementary exam that is fundamental for retinal evaluation, since many of these patients may have low visual acuity unrelated only to the presence of cataracts.

Results

We evaluated 16 patients aged 3 to 71 years (mean age 42.75y), 8 of which were men. IOP (n = 32 eyes) was in average 10.42 mmHg. We found cataract or positivity for surgery in 9 (56.25%) and ptosis in 9 (56.25%), myopia (19 eyes, 59.37 %), hyperopia (6 eyes, 18.75 %), epiretinal membrane (6 patients, 37.5 %), exotropia (3 patients, 18.75 %), ocular motility limitations (4 patients, 25%), blepharitis (4 patients, 25 %) and irregularities in the choriocapillary RPE complex (4 patients, 25 %)

Discussion

Once we know how prevalente the ocular involvement occurs in DM1, the ophtalmological evaluation is important in the multidisciplinary follow up even to prevent and treat causes os low vision in patients with DM1, and also, ophtalmological findings could be the firts sign of the disease, leading to earlier diagnosis and treatment of DM1.

Keywords

Myotonic dystrophy, ocular alterations, epiretinal membrane, cataract, choriocapillary RPE, myopia

Area

CLINICAL CASE

Authors

Stefani H. Nishi Lee, Fabiana Jallad Sallum, Maria Beatriz Santos Elias Daher, Priscila Alves Nascimento, Ellen Y. Fukuda Chiovatto, David Feder, Alzira Alves de Siqueira Carvalho