Mild form of Maroteaux-Lamy syndrome: Corneal histopathology and ultrastructure

Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses (MPSs) that is caused by the incomplete degradation and storage of dermatan sulfate. Methods, We describe a 49-year-old female patient with the mild form of the disease (MPS VI-B) who developed bilateral increasing corneal opacification and increased intraocular pressure after cervical-fusion surgery. After treatment of the increased intraocular pressure, she underwent a penetrating keratoplasty of her right eye. Results. The histopathologic and ultrastructural features of the corneal button were the accumulation of membrane-bound vacuoles containing fibrillogranular and lamellated material in keratocytes and endothelial cells and thinning of Descemet's membrane with excrescences. Conclusion. Our review of the literature reveals only two prior histologic studies of corneas affected by MPS VI B.