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

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

Author Casanova, FHC Google Scholar
Adan, CBD Google Scholar
Allemann, N. Google Scholar
Freitas, D. de Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses caused by enzyme deficiency (arylsulfatase B) that leads to incomplete degradation and storage of dermatan sulfate. We report a case of mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) with corneal involvement and introduce ultrasound biomicroscopy (UBM) as an examination with which to follow disease progression in relation to deposition in cornea, angle, and iris, Methods. We describe a Ii-year-old boy with a clinical and laboratorial diagnosis of MPS VI who developed increasing bilateral corneal opacification and decreased visual acuity. He underwent two seriate UBM (50-MHz transducer) evaluations. Results. UBM examination showed diffuse and homogeneous stromal hyper-reflective deposit in both eyes and an increase in peripheral corneal thickness throughout time. Conclusion. High-frequency ultrasound documentation 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 disease (continuous mucopolysaccharide deposits in corneal stroma). UBM was used to locate and document the deposit, as well as to accompany the deposit's evolution, characterizing corneal changes and angle structure involvement.
Keywords Maroteaux-Lamy syndrome
ultrasound biomicroscopy
Language English
Date 2001-04-01
Published in Cornea. Philadelphia: Lippincott Williams & Wilkins, v. 20, n. 3, p. 333-338, 2001.
ISSN 0277-3740 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 333-338
Access rights Closed access
Type Article
Web of Science ID WOS:000167643000019

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