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Ocular Findings of Myotonic Dystrophy Type 1 in the Korean Population

  • Neurophthalmology
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

To investigate ocular findings in a Korean population with myotonic dystrophy type 1 (DM1).

Methods

A total of 24 Korean patients with DM1, ranging in age from 4 to 71 years, were examined over a period from June 2004 to May 2014. Ophthalmologic examinations including visual acuity assessment, slit-lamp biomicroscopy, ocular motility, cycloplegic refraction, and fundus examination were performed in all patients, and brain magnetic resonance (MR) imaging was performed in 15 patients.

Results

The ocular findings, in order of decreasing prevalence, were as follows: cataract (17 patients, 71 %), myopia (22 eyes, 59 %), hyperopia (13 eyes, 35 %), ptosis (6 patients, 25 %), epiretinal membrane (5 patients, 21 %), exotropia (4 patients, 17 %), ocular motility limitations (4 patients, 17 %), blepharitis (2 patients, 8 %), pigmentary retinopathy (2 patients, 8 %), lid lag (1 patient, 4 %), esotropia (1 patient, 4 %), and myelinated nerve fiber layer (1 patient, 4 %). Five of eight patients (63 %) with CTG repeats ≥ 700 underwent cataract extraction, as did one of 13 patients (8 %) with CTG repeats < 700 (P = 0.014). All four patients who showed limited ocular motility had CTG repeats ≥ 1000. Brain MR imaging showed periventricular white matter lesions in three patients, diffuse brain atrophy in two patients, and extraocular muscle atrophy in two patients.

Conclusions

Korean patients with DM1 showed a high incidence of exotropia in comparison to Caucasian patients with DM1. Our study suggests a possible correlation between the severity of cataract and ocular motility limitation and the size of CTG repeats.

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Acknowledgments

Contributors

Design and conduct of study (JMH and KSP); collection of data (SHC); analysis and interpretation of data (SHC, HKY); preparation of manuscript (SHC, HKY, JMH, KSP); review and approval of manuscript (JMH, KSP).

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Author notes

    Authors and Affiliations

    1. Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 166, Gumiro, Bundang-gu, Seongnam, Gyeonggi-do, 463-707, Korea

      Se Hyun Choi, Hee Kyung Yang & Jeong-Min Hwang

    2. Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea

      Kyung Seok Park

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    1. Se Hyun Choi
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    2. Hee Kyung Yang
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    3. Jeong-Min Hwang
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    Corresponding author

    Correspondence to Jeong-Min Hwang.

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    Funding / Support

    Financial support was provided by the Ministry of Education, Science and Technology in the form of the Basic Science Research Program through the National Research Foundation (NRF) of Korea (2013R1A1A2010606). The sponsor had no role in the design or conduct of this research.

    Conflict of Interest

    All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; or expert testimony or patent-licensing arrangements) or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

    Ethical approval

    All procedures performed in studies involving human participants were in accordance with the ethical standards of the Seoul National University Bundang Hospital and with the 1964 Declaration of Helsinki. For this type of study, formal consent is not required.

    Additional information

    Se Hyun Choi and Hee Kyung Yang contributed equally to this work and should be considered co-first authors.

    Jeong-Min Hwang and Kyung Seok Park should be considered equivalent corresponding authors.

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    Choi, S.H., Yang, H.K., Hwang, JM. et al. Ocular Findings of Myotonic Dystrophy Type 1 in the Korean Population. Graefes Arch Clin Exp Ophthalmol 254, 1189–1193 (2016). https://doi.org/10.1007/s00417-016-3266-5

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