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Invited Commentary
December 2015

Genetics of Fuchs Corneal Dystrophy Comes of Age: Sweet Repeats

Author Affiliations
  • 1Department of Biomedical Sciences, Texas Tech Health Sciences at El Paso
JAMA Ophthalmol. 2015;133(12):1392. doi:10.1001/jamaophthalmol.2015.3445

Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder that affects 5% of those older than 40 years and is the leading indication for corneal transplantation. The first sign of FECD is the presence of microscopic refractile granules in the Descemet membrane that increase in number as the disease progresses. In addition, cells of the corneal endothelium undergo a slow and irreversible attrition until late stages of the disease, when the endothelium finally loses barrier and ion transport functions. This allows an influx of water into the corneal stroma, causing it to swell and lose transparency.1,2

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