In vivo microstructural analysis of the cornea in Scheie's syndrome.

Purpose: To analyze clinical and in vivo microstructural characteristics of both corneas of a 13-year-old male subject with Scheie's syndrome and compare the observations with the pathologic reports in the literature.

Methods: Standard clinical examination and real-time, slit-scanning in vivo confocal microscopy were performed and repeated after 1 year.

Results: In vivo confocal microscopy images at all cellular layers demonstrated brighter intercellular spaces than those of normal corneas. Cicatrization of the anterior stroma was identified, and the keratocytes of the middle and posterior stroma exhibited markedly altered morphology, often round or elliptical in shape, and with clearly demarcated, hyporeflective centers. The nerve fibers of the subbasal plexus were somewhat more irregular and difficult to distinguish, possibly due to underlying fibrosis.

Conclusions: The potential of in vivo confocal microscopy to highlight microstructural alterations of the intact human cornea and evaluate such changes over time might reduce reliance on histopathologic investigations in such conditions and contribute to the ophthalmic management of the mucopolysaccharidoses in the future.