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Clinical, Confocal, and Morphological Investigations on the Cornea in Human Mucopolysaccharidosis IH-S

Aragona, Pasquale PhD, MD; Wylegala, Edward PhD, MD; Wroblewska-Czajka, Ewa MD; Smedowski, Adrian MD; Nowinska, Anna MD; Roszkowska, Anna M. PhD, MD; Pisani, Antonina MD; Micali, Antonio MD; Puzzolo, Domenico MD

doi: 10.1097/ICO.0000000000000005
Clinical Science

Purpose: The aim was to describe the confocal and histological findings of 2 corneas from a patient with an advanced case of type I mucopolysaccharidoses Hurler–Scheie disease (MPS IH-S).

Methods: Both corneas from an MPS IH-S–affected patient were examined in vivo using confocal microscopy and then removed and processed for evaluation using light microscopy and transmission and scanning electron microscopy.

Results: Confocal microscopy evaluation showed basal epithelial cells with either diffuse or granular hyperreflectivity. Keratocytes were highly reflective determining a web-shaped stromal appearance. Endothelial cells were barely visible. The histopathological study demonstrated superficial cells with apical microfolds, small vesicles, and evident intercellular junctions. The wing cells showed either well-evident tonofilaments and small peripheral vesicles, or large paranuclear vesicles. The basal cells showed polygonal shapes, many small vesicles, and enlarged intercellular spaces. The Bowman layer was either normal or thinner and was formed by variably electron dense material. In the stroma, irregularly oriented lamellae, many vesicle-filled keratocytes, and intercellular granular material were present. The Descemet membrane was normal, whereas the corneal endothelium showed marked degenerative changes.

Conclusions: The confocal alterations appeared consequent to the anomalous accumulation of material. The histopathological images gave a clue to better understand the corneal changes demonstrated by the confocal studies in MPS IH-S.

*Department of Experimental Medical-Surgical Sciences, Ocular Surface Diseases Unit, University of Messina, Messina, Italy;

Department of Ophthalmology, District Railway Hospital, Katowice, Poland; and

Department of Biomedical Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.

Reprints: Pasquale Aragona, Department of Experimental Medical-Surgical Sciences, Ocular Surface Diseases Unit, University Hospital of Messina, I-98125, Messina, Italy (e-mail:

The authors have no funding or conflicts of interest to disclose.

Received June 24, 2013

Accepted September 05, 2013

Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.