Document Detail


In vivo confocal microscopic findings of two siblings with Maroteaux-Lamy syndrome.
MedLine Citation:
PMID:  17198020     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To describe the clinical and in vivo confocal microscopic findings of the cornea in 2 male siblings with Maroteaux-Lamy syndrome. METHODS: Two male siblings 27 and 22 years of age who had been diagnosed with Maroteaux-Lamy syndrome underwent ophthalmologic assessment. In vivo confocal microscopy of their corneas was performed with Confoscan 3.0 (Vigonza, Italy). RESULTS: Slit-lamp examination of the central and peripheral corneas of both siblings revealed mild haze and diffuse stromal opacities. The fundus examination of the older sibling was significant for left optic disc swelling and bilateral radial macular folds. In vivo confocal microscopy of the corneas of both cases revealed several microdeposits that were present extracellularly and within keratocytes in all stromal layers, ranging in size from 1.0 to 3.8 microm. Abnormal keratocytes containing hyporeflective vacuoles were present to a greater extent in the posterior and middle stromal layers compared with the anterior stroma. The endothelial cell layer, the subbasal nerve plexus, and the stromal nerves had normal morphologic features. CONCLUSIONS: In corneas of patients with Maroteaux-Lamy syndrome, glycosaminoglycan deposition and abnormal keratocytes may be present in all stromal layers. The endothelial layer seems to be normal at the third decade of life in both subjects studied.
Authors:
Mehmet C Mocan; Bora Eldem; Murat Irkec
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Cornea     Volume:  26     ISSN:  0277-3740     ISO Abbreviation:  Cornea     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-01     Completed Date:  2007-02-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8216186     Medline TA:  Cornea     Country:  United States    
Other Details:
Languages:  eng     Pagination:  90-3     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adult
Cornea / pathology*
Corneal Diseases / diagnosis*
Humans
Male
Microscopy, Confocal
Mucopolysaccharidosis VI / diagnosis*
Siblings

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