Literature DB >> 9820948

Mild form of Maroteaux-Lamy syndrome: corneal histopathology and ultrastructure.

N M Laver1, M H Friedlander, I W McLean.   

Abstract

PURPOSE: Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses (MPSs) that is caused by the incomplete degradation and storage of dermatan sulfate.
METHODS: We describe a 49-year-old female patient with the mild form of the disease (MPS VI-B) who developed bilateral increasing corneal opacification and increased intraocular pressure after cervical-fusion surgery. After treatment of the increased intraocular pressure, she underwent a penetrating keratoplasty of her right eye.
RESULTS: The histopathologic and ultrastructural features of the corneal button were the accumulation of membrane-bound vacuoles containing fibrillogranular and lamellated material in keratocytes and endothelial cells and thinning of Descemet's membrane with excrescences.
CONCLUSION: Our review of the literature reveals only two prior histologic studies of corneas affected by MPS VI B.

Entities:  

Mesh:

Year:  1998        PMID: 9820948     DOI: 10.1097/00003226-199811000-00015

Source DB:  PubMed          Journal:  Cornea        ISSN: 0277-3740            Impact factor:   2.651


  3 in total

1.  Clinical and morphological features including expression of betaig-h3 and keratan sulphate proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea.

Authors:  Saeed Akhtar; Andrew Tullo; Bruce Caterson; Janet R Davies; Kelly Bennett; Keith M Meek
Journal:  Br J Ophthalmol       Date:  2002-02       Impact factor: 4.638

Review 2.  The challenging management of pediatric corneal transplantation: an overview of surgical and clinical experiences.

Authors:  Antonio Di Zazzo; Stefano Bonini; Salvatore Crugliano; Michele Fortunato
Journal:  Jpn J Ophthalmol       Date:  2017-04-03       Impact factor: 2.447

3.  Spectral domain optical coherence tomography imaging of mucopolysaccharidoses I, II, and VI A.

Authors:  Susie Seok; In Jeong Lyu; Kyung Ah Park; Sei Yeul Oh
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2015-02-18       Impact factor: 3.117

  3 in total

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