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

Cornea
F H CasanovaD de Freitas

Abstract

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. We describe a 11-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. UBM examination showed diffuse and homogeneous stromal hyper-reflective deposit in both eyes and an increase in peripheral corneal thickness throughout time. 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 evolutio...Continue Reading

References

Oct 15, 1989·American Journal of Ophthalmology·L B CantorF M Wilson
Apr 11, 1985·The New England Journal of Medicine·D L Jackson
Jun 1, 1970·American Journal of Ophthalmology·M F GoldbergV A McKusick
Apr 15, 1996·The Journal of Clinical Investigation·A C CrawleyJ J Hopwood

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Citations

May 21, 2005·Eye·J L AshworthI C Lloyd
Jan 26, 2010·Cornea·Ulrike KottlerSusanne Pitz
Sep 22, 2010·Cornea·Mohsen Rahmati-KamelFarid Karimian
May 2, 2012·Case Reports in Ophthalmology·Bruno Duarte GomesLuiz Carlos Santana da Silva
Oct 16, 2008·Current Opinion in Ophthalmology·Jyotirmay BiswasPrabhat Ranjan
Jan 18, 2006·Survey of Ophthalmology·Jane L AshworthI Chris Lloyd
Jan 12, 2020·Clinical & Experimental Ophthalmology·Esteban A GonzalezGuilherme Baldo

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