Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome

Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses caused by enzyme deficiency (arylsulfatase B) that leads to incomplete degradatio n and storage of dermatan sulfate. We report a case of mucopolysaccharidosi s type VI (MPS VI; Maroteaux-Lamy syndrome) with corneal involvement and in troduce ultrasound biomicroscopy (UBM) as an examination with which to foll ow disease progression in relation to deposition in cornea, angle, and iris , Methods. We describe a Ii-year-old boy with a clinical and laboratorial d iagnosis of MPS VI who developed increasing bilateral corneal opacification and decreased visual acuity. He underwent two seriate UBM (50-MHz transduc er) evaluations. Results. UBM examination showed diffuse and homogeneous st romal hyper-reflective deposit in both eyes and an increase in peripheral c orneal thickness throughout time. Conclusion. High-frequency ultrasound doc umentation of corneal deposit and anterior segment involvement in a patient with Maroteaux-Lamy syndrome is unique, and follow-up revealed thickening of the corneal periphery, which may be related to the progression of the di sease (continuous mucopolysaccharide deposits in corneal stroma). UBM was u sed to locate and document the deposit, as well as to accompany the deposit 's evolution, characterizing corneal changes and angle structure involvemen t.