Abstract:
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.
journal_name
Corneajournal_title
Corneaauthors
Mocan MC,Eldem B,Irkec Mdoi
10.1097/ICO.0b013e31802be383subject
Has Abstractpub_date
2007-01-01 00:00:00pages
90-3issue
1eissn
0277-3740issn
1536-4798pii
00003226-200701000-00016journal_volume
26pub_type
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