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Ocular findings in a Spanish cohort of myotonic dystrophy type 1

Graefe's Archive for Clinical and Experimental Ophthalmology volume 261, pages 1109–1114 (2023)Cite this article

Abstract

Purpose

Myotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present study investigates the frequency of the different ocular alterations in Spanish patients with DM1 and its relationship with the severity of the genetic alteration.

Methods

Cross-sectional and multicenter study was conducted on patients with genetically confirmed DM1. Ophthalmologic examinations included visual acuity assessment, manifest refraction, slit-lamp biomicroscopy, tonometry, ocular motility, corneal tomography, and macular and optic nerve optical coherence tomography.

Results

A total of 42 patients (84 eyes) were included. Mean age was 46.9 ± 13.4 (SD) years, and 57.1% were women. Fifteen patients had undergone cataract surgery in at least one eye (35.7%), and 13 (30.9%) had significant cataract. Mean intraocular pressure (IOP) was 10.5 ± 2.9 mmHg, and mean central corneal thickness (CCT) was 580.04 ± 48.61 μm. Half of the patients had significant ptosis, and 8 patients (9.75%) had undergone eyelid surgery. Macular abnormalities included retinal pigment epithelium alterations in 8 eyes of 6 patients, epiretinal membrane in 3 eyes, and lamellar hole in 2 eyes. A moderate correlation was found between IOP and ptosis with the number of triplet repeats.

Conclusion

Early cataract onset, low IOP, thicker CCT, and ptosis were the most significant manifestations of DM in our sample. Correlation found between IOP and ptosis with CTG repeat could be interesting in order to improve diagnosis and medical care of these patients but should be confirmed in further studies.

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Authors and Affiliations

  1. Hospital Universitario Ramón Y Cajal, IRYCIS, Madrid, Spain

    Ignacio García-Cruz, Francisco José Muñoz-Negrete, María Dolores Pérez-Bañón & David Mingo-Botín

  2. Vissum Miranza, Alicante, Spain

    Ignacio García-Cruz & Jorge L. Alió

  3. Universidad de Alcalá, Alcalá, Spain

    Francisco José Muñoz-Negrete

  4. Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, Spain

    Blanca Benito-Pascual & Pedro Arriola-Villalobos

  5. Sydney Eye Hospital, Sydney, Australia

    Blanca Benito-Pascual

  6. Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid (UCM), IdISSC, Madrid, Spain

    Pedro Arriola-Villalobos

  7. Universidad Miguel Hernández, Alicante, Spain

    Jorge L. Alió

  8. IMO Madrid, Grupo Miranza, Madrid, Spain

    David Mingo-Botín

Authors
  1. Ignacio García-Cruz
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  2. Francisco José Muñoz-Negrete
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Corresponding author

Correspondence to Ignacio García-Cruz.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the Ramón y Cajal University Hospital Ethics Committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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The authors declare no competing interests.

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García-Cruz, I., Muñoz-Negrete, F.J., Benito-Pascual, B. et al. Ocular findings in a Spanish cohort of myotonic dystrophy type 1. Graefes Arch Clin Exp Ophthalmol 261, 1109–1114 (2023). https://doi.org/10.1007/s00417-022-05875-4

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  • DOI: https://doi.org/10.1007/s00417-022-05875-4

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