Endothelial cell dysfunction as in Fuchs dystrophy or pseudophakic bullous keratopathy, and the limited regenerative capacity of human corneal endothelial cells (HCECs), drive the need for corneal transplant. In response to limited donor corneal availability, significant effort has been directed towards cell therapy as an alternative to surgery. Stimulation of endogenous progenitors, or transpl...

PURPOSE Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether...

Transcription of expanded microsatellite repeats is associated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72-ALS/FTD. Reducing production of RNA and proteins arising from these expanded loci holds therapeutic benefit. Here, we tested the hypothesis that deactivated Cas9 enzyme impedes transcription across expanded microsatellites. W...

purpose: to evaluate the visual outcomes and complications of deep lamellar endothelial keratoplasty (dlek) for management of corneal endothelial disorders. methods: from 2003 to 2005, nine eyes of nine patients with severe bullous keratopathy due to endothelial dysfunction underwent dlek. uncorrected (ucva) and best-corrected (bcva) visual acuity were evaluated pre- and one week, 1, 3 and 6 mo...

PURPOSE To estimate the prevalence of corneal dystrophies. METHODS Records of almost 8 million enrollees in a national managed-care network throughout the United States who had an eye care visit in 2001 to 2009 were searched for a recording of corneal dystrophy on a claim submitted by an ophthalmologist or optometrist from January 1, 2001, through December 31, 2007. RESULTS Unique individua...

The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Biet...

PURPOSE Boston Terriers (BTs) have a greater prevalence of corneal endothelial dystrophy (CED), in comparison to other canine breeds. Similar to Fuchs' endothelial corneal dystrophy (FECD), this condition is characterized by endothelial cell degeneration with secondary corneal edema. This study assessed corneal morphology using in vivo confocal microscopy (IVCM) and Fourier-domain optical coher...

The corneal endothelium, made up of a uniform monolayer of polygonal cells having a width of approximately 20 , is a fundamental structure for maintaining corneal transparency by means of active transport of water in the reverse direction to avoid corneal edematization.1 Primary endothelial disorders such as Fuchs’ endothelial dystrophy or acquired lesions such as those secondary to surgical tr...