How To Optimize The Eye Care Management Of Patients With Myotonic Dystrophy Type 1 ?

Abstract

Purpose: : Myotonic dystrophy type 1 or Steinert’s disease (DM1), the most frequent genetic myopathy in adults, is a multi-systemic disease. The occurrence of a cataract with typical signs provides an opportunity for early diagnosis of DM1. The aim of this study was to describe the characteristics of cataract and to document diagnostic delay in a large DM1 population

Methods: : DM-scope is an international longitudinal, observational, DM1 registry. It collects epidemiological and multi-systemic involvement data from 2100 enrolled DM1 subjects of 32 neuromuscular centers in Canada and France. We analyzed the prevalence of the cataract and the frequency of cataract surgery in this population through a cross-sectional study based on the ophthalmologic indicators of the database. The number of patients operated for cataract before the genetic diagnosis has been documented.

Results: : The prevalence of the cataract in the DM1 population was 60% and the mean age of onset was 40 years old. Cataract has been diagnosed and operated prior to DM1 diagnosis in 50% and 48% of patients respectively; the mean diagnostic delay was 8 years. We further investigated possible correlations between the age of onset of cataract and the mutation size (CTG repeats), as much as other associated predisposing factors (diabetes, thyroid disorders, heart defects).The cataract associated to DM1 is not uncommon and affects young people. This cataract is characterized by its typical clinical features. Furthermore, DM1 patients who underwent cataract surgery may experience more frequently secondary cataract and secondary capsulorhexis contraction. This study, mainly based on the ophthalmological side of the DM-scope registry, shows that the cataract can precede the diagnosis of DM1 in 50% of cases and that young people with cataract should be investigated for DM1.

Conclusions: : A better collaboration between ophthalmologists and neurologists from neuromuscular centers will optimize the management of DM1 patients, leading to reduce the age at DM1 diagnosis for patients with cataract. Moreover, ophthalmologists should be aware that postoperative care after cataract surgery could be more frequently associated to local complications.

Keywords: cataract • clinical (human) or epidemiologic studies: prevalence/incidence