X-ray diffraction and transmission electron microscopy of Morquio syndrome type A cornea: a structural analysis.

PURPOSE: This case report describes the structural characterization of the corneal stroma from a patient with Morquio syndrome type A.

METHODS

A left penetrating keratoplasty was performed, and the cornea was examined using transmission electron microscopy and synchrotron x-ray diffraction. The interfibrillar proteoglycans were visualized in the electron microscope by using cuprolinic blue.

RESULTS

Stromal collagen fibrils showed a bimodal distribution of diameters: 70% had a distribution comparable to that in normal tissue (20-30 nm) and 30% contained larger fibrils (30-42 nm) as seen by electron microscopy. Both electron microscopy and x-ray diffraction showed that the bulk numeric density of fibrils per unit area in cross-section (number density) was higher than normal in the Morquio syndrome cornea. The arrangement of proteoglycans throughout most of the Morquio syndrome cornea appeared normal, but many of the filaments were twice their normal length. In the anterior stroma, very large proteoglycan filaments (< or = 400 nm long) were found. Other ultrastructural differences also were noted, including abnormal keratocytes and long spacing collagen.

CONCLUSION

The variation in fibril diameter and number density were modeled to account for only a 5% decrease in light scattering compared with the normal cornea. The extensive corneal clouding seen in the Morquio syndrome cornea cannot therefore be attributed to the variation in fibril diameters; collagen-free areas and expanded cells seem to be the most likely cause.