In vivo microstructural analysis of the cornea in Maroteaux-Lamy syndrome

PURPOSE: This report describes the clinical and in vivo microstructural features of the cornea in a case of Maroteaux-Lamy syndrome. METHODS: A 17-year-old female with Maroteaux-Lamy syndrome was examined by slit-lamp biomicroscopy, Orbscan II slit-scanning elevation topography, and in vivo confocal microscopy. RESULTS: Slit-lamp biomicroscopy revealed bilateral, altered corneal transparency involving the posterior half of the stroma. Funduscopy revealed bilateral small, crowded optic discs, and radial macula retinal folds.On in vivo confocal microscopy, the middle and posterior stroma were clearly visualized and exhibited well-defined, unusually shaped keratocytes. These cells contained single or multiple hyporeflective regions with well-defined borders that ranged from 1 to 11.6 microm in diameter. These abnormal keratocytes were particularly abundant in the posterior stroma and sparse in the anterior stroma. CONCLUSIONS: This is the first case of Maroteaux-Lamy syndrome in which altered corneal transparency has been imaged by in vivo confocal microscopy and macula retinal folds have been described.