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Viewpoint |

Fuchs Endothelial Corneal Dystrophy A Neurodegenerative Disorder?

Angela Y. Zhu, BS1; Charles G. Eberhart, MD, PhD2; Albert S. Jun, MD, PhD2
[+] Author Affiliations
1Case Western Reserve University School of Medicine, Cleveland, Ohio
2Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland
JAMA Ophthalmol. 2014;132(4):377-378. doi:10.1001/jamaophthalmol.2013.7993.
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First described more than a century ago, Fuchs endothelial corneal dystrophy (FECD) is a common disease characterized by progressive loss of endothelial cells, thickening of the Descemet membrane, and deposition of extracellular matrix in the form of guttae. Advanced cases result in corneal edema and vision loss occurring in patients aged 60 years or older.1

Genetic studies have identified associated genes and chromosomal loci, while proteomic and genomic studies are elucidating molecular pathogenesis. These recent findings suggest a new context in which FECD may be considered—as a neurodegenerative disorder. In this Viewpoint, we explore parallels between FECD and neurodegenerative diseases with better-understood pathogenic mechanisms such as Huntington disease, Fragile X syndrome, and Alzheimer disease. By comparing FECD with this group, we propose some mechanistic themes that may give insight into pathophysiology and possible nonsurgical treatments.

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