In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses

Abstract

The mucopolysaccharidoses are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intracellular and extracellular accumulation of glycosaminoglycans. Due to the mucopolysaccharidoses subtype, glycosaminoglycans can be deposited in many organs and tissues including cornea. In this report, we presented in vivo confocal microscopy and anterior segment optical coherence tomography findings in a 39-year old man with Scheie syndrome and a 41-year old woman with Morquio syndrome (Heidelberg Retina Tomograph 3 Rostock module, Germany) and reviewed the literature. On in vivo confocal microscopy, there were multiple small and larger hyperreflective deposits in the epithelium, Bowman layer and anterior stroma and abnormally shaped, elongated keratocytes with hyporeflective round structures, which might be vacuoles in the anterior-mid stroma. In anterior segment optical coherence tomography images, accumulation of glycosaminoglycans deposits lead to an increased hypereflective appearance throughout the thickened cornea.

Keywords

• in vivo confocal microscopy
• mucopolysaccharidoses
• morquio syndrome
• scheie syndrome