New and Unusual Pathologic Findings in Two Patients With Congenital Hereditary Endothelial Dystrophy

Abstract

Purpose:: Congenital hereditary endothelial dystrophy (CHED) is a condition characterized by bilateral corneal edema. This disorder is primarily a dystrophy of the corneal endothelium. We will describe some new pathologic findings in two children with this disorder.

Methods:: Two young girls developed severely progressive bilateral corneal clouding within the first six months of life. An examination, under anesthesia if necessary, was done which included biomicroscopy and corneal pachymetry. After corneal transplantation was performed, light and electron microscopy of the corneal specimens was done.

Results:: Corneal pachymetry revealed bilateral central corneal thickness greater than 1000 mcm. Slit lamp biomicroscopy revealed thickened, cloudy corneas bilaterally. Metabolic workup was negative. Electron microscopy of the corneal buttons revealed scattered breaks in Bowman’s layer, central thinning, and marked posterior stromal edema. There was significant variation in thickness of stromal lamellae. However, there were also found to be focal breaks in Descemet’s membrane, and a normal endothelium with hydropic keratocytes in one specimen. Two independent unbiased ocular pathologists reviewed these findings and felt that they had features consistent with both CHED and keratoconus.

Conclusions:: Two patients presented clinically with congenital hereditary endothelial dystrophy but light and electron microscopy of the corneal buttons revealed pathologic findings of both keratoconus and congenital hereditary endothelial dystrophy. Keratoconus in infants has not been previously described, as this disease entity presents in late childhood to adulthood. The findings in these two cases indicate that in both CHED and hydropic keratoconus there are abnormalities in the posterior stromal lamellae and Descemet’s membrane which can clinically present with corneal edema or hydrops. These cases may therefore represent a spectrum of pediatric corneal disease with varying involvement of the posterior corneal layers.

Keywords: cornea: endothelium • pathology: human • keratoconus