Coexistence of myotonic muscular dystrophy and Fuchs corneal endothelial dystrophy

case report

Authors

  • Rocío A. Gomez Centro Médico Oftalmológico IOFA, Buenos Aires, Argentina
  • Tomás Etcheverry Centro Médico Oftalmológico IOFA, Buenos Aires, Argentina
  • Laura E. Alba Centro Médico Oftalmológico IOFA, Buenos Aires, Argentina
  • Alejandro Signorelli Centro Médico Oftalmológico IOFA, Buenos Aires, Argentina
  • Ricardo Zaldúa Centro Médico Oftalmológico IOFA, Buenos Aires, Argentina
  • Gustavo J. Galperín Centro Médico Oftalmológico IOFA, Buenos Aires, Argentina

DOI:

https://doi.org/10.70313/2718.7446.v17.n01.292

Keywords:

corneal disease, Fuchs endothelial corneal dystrophy, motonic dystrophy, corneal edema

Abstract

We present the case of a 41-year-old woman with an established diagnosis of Steinert’s myotonic dystrophy and the presence of signs compatible with Fuchs endothelial corneal dystrophy. In patients with Steinert there may be an association with Fuch’s as a cause of corneal edema. Therefore, it is essential to carry out periodic ophthalmological controls. On the other hand, considering the association of type 1 Steinert’s myotonic dystrophy with the development of cataract, it is suggested specular microscopy be performed before carrying out any surgical procedure in order to evaluate the corneal endothelium prior to the intervention.

References

Kumar A, Agarwal S, Agarwal D, Phadke SR. Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder. Gene 2013; 522: 226-230.

Meola G, Cardani R. Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta 2015; 1852: 594-606.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M et al. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert’s disease. Neurología (Engl Ed) 2020; 35: 185-206.

Rosa N, Lanza M, De Bernardo M et al. Anterior capsule phimosis and capsular block syndrome in a patient with Steinert myotonic dystrophy: a case report. Cases J 2009; 2: 9298.

Gattey D, Zhu AY, Stagner A et al. Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy: a case series. Cornea 2014; 33: 96-98.

Rosa N, Lanza M, Borrelli M et al. Corneal thickness and endothelial cell characteristics in patients with myotonic dystrophy. Ophthalmology 2010; 117: 223-225.

Winkler NS, Milone M, Martinez-Thompson JM et al. Fuchs’ endothelial corneal dystrophy in patients with myotonic dystrophy, type 1. Invest Ophthalmol Vis Sci 2018; 59: 3053-3057.

Mootha VV, Hansen B, Rong Z et al. Fuchs’ endothelial corneal dystrophy and RNA foci in patients with myotonic dystrophy. Invest Ophthalmol Vis Sci 2017; 58: 4579-4585.

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Published

2024-03-27

How to Cite

[1]
Gomez, R.A., Etcheverry, T., Alba, L.E., Signorelli, A., Zaldúa, R. and Galperín, G.J. 2024. Coexistence of myotonic muscular dystrophy and Fuchs corneal endothelial dystrophy: case report. Oftalmología Clínica y Experimental. 17, 01 (Mar. 2024), e94-e97. DOI:https://doi.org/10.70313/2718.7446.v17.n01.292.

Issue

Section

Casos Clínicos

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