Corneal and conjunctival changes in congenital erythropoietic porphyria

Penetrating keratoplasty and conjunctival resection were performed on a 53-year-old woman with confirmed congenital erythropoietic porphyria. Corneal and conjunctival tissue samples, studied by light and electron microscopy, revealed inflammatory cells and a reduced keratocyte population. Vessels within the conjunctival and corneal stroma displayed a thickened basement membrane. Microfibrillar material was seen in the extracellular spaces of the conjunctival stroma. These changes are similar to those reported for ultraviolet light-exposed skin of porphyria patients. The Descemet's membrane lacked the normal fetal and postnatal banding. It presented as a homogeneous layer, consisting of uniform, densely packed collagen fibers, which suggests endothelial damage in utero. The corneal endothelium was severely damaged.