Management of Corneal Clouding in Patients with Mucopolysaccharidosis

Abstract

Mucopolysaccharidoses (MPS) are a rare group of lysosomal storage disorders characterized by the accumulation of incompletely degraded glycosaminoglycans (GAGs) in multiple organ systems including the eye. Visual loss occurs in MPS predominantly due to corneal clouding and retinopathy, but the sclera, trabecular meshwork and optic nerve may all be affected. Despite the success of therapies such as enzyme replacement therapy (ERT) and hematopoietic stem-cell transplantation (HSCT) in improving many of the systemic manifestations of MPS, their effect on corneal clouding is minimal. The only current definitive treatment for corneal clouding is corneal transplantation, usually in the form of a penetrating keratoplasty or a deep anterior lamellar keratoplasty. This article aims to provide an overview of corneal clouding, its current clinical and surgical management, and significant research progress.

Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis

“…3 Over the past few decades, treatments in the form of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) have greatly improved systemic mortality and morbidity in patients with MPS. [4][5][6][7] Improving life span has meant that preservation of vision is of increasing importance to maintain quality of life. Therefore, understanding the ocular phenotype and how it changes over time is essential to recognize the natural history and the effects of new treatments.…”