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.
Ueda
S
S
Department of Ophthalmology, University of Rochester Medical Center, New York.
Rao
G N
GN
LoCascio
J A
JA
del Cerro
M
M
Aquavella
J V
JV
D003228:Conjunctiva / Q000473:pathology* / Q000601:surgery / Q000648:ultrastructure; D003315:Cornea / Q000473:pathology* / Q000648:ultrastructure; D016039:Corneal Transplantation; D003886:Descemet Membrane / Q000473:pathology / Q000648:ultrastructure; D004728:Endothelium, Corneal / Q000473:pathology / Q000648:ultrastructure; D004847:Epithelial Cells; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D008875:Middle Aged; D011164:Porphyrias / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D014792:Visual Acuity