Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy: a case series
Devin Gattey1, Angela Y Zhu, Anna Stagner
1*Casey Eye Institute, Oregon Health and Science University, Portland, OR; †Case Western Reserve University School of Medicine, Cleveland, OH; ‡Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE; §Devers Eye Institute, Portland, OR; and ¶Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, MD.
Purpose:
The aim was to report 4 cases of Fuchs endothelial corneal dystrophy (FECD) in patients with an established diagnosis of myotonic dystrophy (DM) and suggest a mechanism for their association based on the known molecular genetics and potential pathophysiological parallels of DM and FECD.
Methods:
We reviewed all available medical records and pathology slides for the 4 reported cases from the Department of Ophthalmology at Oregon Health and Science University's Casey Eye Institute and Devers Eye Institute at the Legacy Good Samaritan Medical Center in Portland, OR.
Results:
Four patients were found to have DM and bilateral corneal guttae, consistent with the diagnosis of FECD. All the identified patients were female and were aged between 34 and 63, and 2 patients were related (mother and daughter). The corneal specimens from 2 of the 4 patients who had undergone a corneal transplant were pathologically confirmed to be consistent with the diagnosis of FECD.
Conclusions:
To our knowledge, FECD has not been previously reported in association with DM. Because both diseases are somewhat prevalent in the United States, it is possible that their coexistence is merely a coincidence in these patients. However, recent studies into the pathogenesis of each disease have shown more parallels between FECD and DM, suggesting the possibility of a noncoincidental association. Potential mutual pathogenic mechanisms may involve altered protein expression causing the deregulation of ion homeostasis, an unstable intronic trinucleotide repeat expansion, or activation of the unfolded protein response and oxidative stress pathways.
Insights
Fuchs endothelial corneal dystrophy (FECD) was observed in four patients with myotonic dystrophy (DM). Potential shared mechanisms include protein expression, repeat expansion, or unfolded protein response pathways.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Myotonic dystrophy (DM) is a multisystemic disorder.
- Fuchs endothelial corneal dystrophy (FECD) affects the cornea.
Observation:
- Four patients with DM were diagnosed with FECD.
- All affected patients were female, aged 34-63; two were related.
- Pathology confirmed FECD in corneal transplant specimens.
Findings:
- This is the first reported association of FECD with DM.
- The coexistence may be coincidental due to disease prevalence.
- Shared pathogenic pathways are suggested.
Implications:
- Potential links include ion homeostasis, repeat expansion, and stress responses.
- Further research is needed to elucidate the association.
- Understanding shared mechanisms could inform treatment strategies.
Related Concept Videos
01:21Satellite Stem Cells and Muscular Dystrophy
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy