Congenital hereditary endothelial dystrophy associated with glaucoma

Three children, ranging in age from 2 to 6 months, had diffuse and homogeneously opaque corneas, clinically consistent with congenital hereditary endothelial dystrophy. Bilateral elevated intraocular pressure (IOP) was a feature in all three children.

Initially, all patients underwent glaucoma surgery to reduce IOP. Subsequently, a penetrating keratoplasty was performed in one eye of each patient to clear the visual axis. The excised corneal button was examined by light microscopy and by transmission and scanning electron microscopy.

Postoperatively, all patients maintained clear corneal grafts. Results of histopathologic examination showed an absence of the endothelial cell layer in all patients. The presence of a variably thick collagenous layer posterior to the anterior banded zone of Descemet's membrane and the absence of endothelial cells were noted on transmission electron microscopy. Scanning electron microscopy confirmed absent, or scanty, and abnormal endothelial cells.

The authors describe three patients with a clear association between congenital glaucoma and congenital hereditary endothelial dystrophy. This combination should be suspected where persistent and total corneal opacification fails to resolve after normalization of IOP.