title: Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient.
abstract: This case report describes a 14-year-old girl with Hurler syndrome, who had received a successful bone marrow-transplant at the age of two. Corneal clouding was present at the time of transplant and has only partially cleared. A right penetrating keratoplasty was performed and the corneal specimen was examined by light microscopy, transmission electron microscopy with Cuprolinic blue staining for proteoglycans, and low-angle X-ray diffraction. The results show the corneal stroma to be disrupted by vacuolated stromal cells. There is abnormal accumulation of proteoglycans in the vacuolated stromal cells and nearby stroma. These proteoglycans mainly contain chondroitin/dermatan sulphate glycosaminoglycans since they are susceptible to chondroitinase ABC. There are a large range of fibril diameters (12.5-50.1 nm) and there is an abnormal distribution of the fibril diameters measured from micrographs. Both are confirmed by X-ray diffraction results (the mean collagen fibril diameters are in a range between 29.7 and > 51.1 nm). X-ray diffraction also shows that the mean centre-to-centre distance of the fibrils slightly increases. These findings suggest that proteoglycans play a role in modelling the stromal structure and can also explain the corneal clouding. Many long-spacing collagen structures with a mean periodicity of 91.8 nm are observed in the corneal stroma. The finding that the long-spacing collagen consists of fine collagen fibrils and that very few proteoglycans filaments bind to them suggests that some change in the interaction of proteoglycans and collagen is responsible for the formation of long-spacing collagen. To our knowledge, this is the first ultrastructural study of the cornea from a bone marrow-transplant patient with Hurler syndrome. The structural features documented here relate to a cornea incompletely corrected by bone marrow transplantation.
authors.affiliation: Oxford Research Unit, Open University, UK.
authors.forename: Y
authors.initials: Y
authors.lastname: Huang
authors.forename: A J
authors.initials: AJ
authors.lastname: Bron
authors.forename: K M
authors.initials: KM
authors.lastname: Meek
authors.forename: A
authors.initials: A
authors.lastname: Vellodi
authors.forename: B
authors.initials: B
authors.lastname: McDonald
mesh_terms: D000293:Adolescent; D016026:Bone Marrow Transplantation; D003094:Collagen / Q000648:ultrastructure; D003315:Cornea / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008059:Mucopolysaccharidosis I / Q000473:pathology / Q000628:therapy*; D014617:Vacuoles / Q000648:ultrastructure; D014961:X-Ray Diffraction
chemical_list: D003094:Collagen