Mucopolysaccharidosis Type I–Associated Corneal Disease: A Clinicopathologic Study
| Autor: | Anna M. Stagner, Vamsee K Neerukonda, Imani M. Williams, Roberto Pineda |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0303 health sciences
Pathology medicine.medical_specialty business.industry Mucopolysaccharidosis medicine.medical_treatment Corneal Transplant medicine.disease Colloidal iron eye diseases Glycosaminoglycan 03 medical and health sciences Ophthalmology Mucopolysaccharidosis type I 0302 clinical medicine 030221 ophthalmology & optometry medicine sense organs Hurler syndrome business Corneal transplantation 030304 developmental biology Corneal disease |
| Zdroj: | American Journal of Ophthalmology. 231:39-47 |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/j.ajo.2021.05.014 |
| Popis: | Purpose To report the anterior segment clinical features and histopathologic and histochemical characteristics of explanted corneas from the largest reported cohort of patients with Hurler syndrome and other variants of mucopolysaccharidosis (MPS) I undergoing corneal transplantation. Design Retrospective observational case series. Methods This institutional study reviewed 15 corneas from 9 patients with MPS I spectrum disease who underwent corneal transplant to treat corneal clouding between May 2011 and October 2020. We reviewed the clinical data, hematoxylin-eosin–stained sections, and histochemical stains, including those for mucopolysaccharides (Alcian blue and/or colloidal iron). The main outcome measures were pathology observed under light microscopy and postsurgical clinical outcomes. Results Nine patients underwent 15 corneal transplants for corneal clouding (14/15 procedures were deep anterior lamellar keratoplasty). All corneas had mucopolysaccharide deposition visible on hematoxylin-eosin–stained sections, which was highlighted in blue with histochemical stains. All corneas also showed alterations in Bowman's layer and the majority also showed epithelial abnormalities. Conclusion MPS I shows significant corneal clouding that is successfully treated with deep anterior lamellar keratoplasty. The excised corneas show characteristic epithelial changes, disruption or breaks in Bowman's membrane, and amphophilic collections of stromal granular mucopolysaccharides which are visible on hematoxylin-eosin–stained sections and highlighted by special histochemical stains (Alcian blue and collodial iron). These changes, although subtle, should alert the pathologist to the possibility of an underlying lysosomal storage disorder. |
| Databáze: | OpenAIRE |
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