Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux–Lamy Syndrome

The study highlights the alterations in various corneal layers, which have seldom been reported on Maroteaux-Lamy syndrome. Nonetheless, the GAG deposits identified and the changes in Bowman layer align with the literature. PK temporarily improved corneal clarity. However, long-term visual outcomes were poor because of optic nerve damage. Early diagnosis and multidisciplinary management are essential to improve outcomes.

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Publication Details

Journal
Cornea
Published
2025-03-13
DOI
https://doi.org/10.1097/ico.0000000000003855
Primary Topic
Glaucoma and retinal disorders
Type
article
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article

Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux–Lamy Syndrome

José Manuel Lopes, Elisa Leão Teles, Ana Faria Pereira, Raúl Moreira et al.
Cornea
Glaucoma and retinal disorders
article

Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux–Lamy Syndrome

José Manuel Lopes, Elisa Leão Teles, Ana Faria Pereira, Raúl Moreira, Augusto Magalhães, Sofia Pedrosa
article en

Abstract

The study highlights the alterations in various corneal layers, which have seldom been reported on Maroteaux-Lamy syndrome. Nonetheless, the GAG deposits identified and the changes in Bowman layer align with the literature. PK temporarily improved corneal clarity. However, long-term visual outcomes were poor because of optic nerve damage. Early diagnosis and multidisciplinary management are essential to improve outcomes.

CorneaVol. 45(3)
Universidade do Porto (PT), Hospital de São João (PT), i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
Openalex Percentile: Top 91%
Glaucoma and retinal disorders
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