Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported...

Penetrating keratoplasty in young children with congenital hereditary endothelial dystrophy.

PURPOSE To report the visual results and success rate of penetrating keratoplasty (PKP) in a series of young children with congenital hereditary endothelial dystrophy (CHED). METHODS This is a retrospective study on twenty-four eyes of 15 patients (seven male and eight female) operated on for CHED. Children less than 12 years of age at the time of surgery who were followed for at least 6 mont...

Descemet’s stripping automated endothelial keratoplasty for congenital hereditary endothelial dystrophy

Congenital hereditary endothelial dystrophy (CHED), presents in infancy or early childhood with bilateral clouding of corneas. This condition has previously been managed surgically with penetrating keratoplasty (PKP). Performing PKP in pediatric patients has its own set of difficulties. More recently, there has been growing interest in treating this condition with Descemet's stripping automated...

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutati...