Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy.

A thick cornea is a constant ocular finding in the mesodermal dysmorphodystrophy (Weill-Marchesani Syndrome). In this study we investigated with confocal microscopy, the corneal structure in vivo in the patient affected by Weill-Marchesani Syndrome (WMS) in an attempt to explain the thickness increment. The corneal study showed in both eyes a highly increased central thickness with normal topography and sensitivity. The confocal examination revealed an increased evidence of keratocytes in the anterior stroma with abnormal and activated appearance. The mid and deep stroma and endothelial layer were normal. These confocal findings are a newly described feature of corneal involvement in WMS. The increase of the corneal thickness in the affected patient maybe associated with connective tissue alterations, such as abnormal collagen synthesis, that characterizes the disease.