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.
Highlights
Corneal clouding resulting in photophobia and compromised vision is frequently observed in mucopolysaccharidoses (MPS) subtypes, including MPS I, MPS IV, MPS VI, and MPS VII [1]
Visual deterioration in MPS occurs due to corneal clouding, retinopathy, glaucoma, and optic neuropathy [1]. (See Table 1 for a summary of the ocular manifestations of MPS)
This study demonstrated that clear corneal grafts can be obtained for patients with corneal clouding due to MPS with improvement in visual acuity in the majority [60]
Summary
Corneal clouding resulting in photophobia and compromised vision is frequently observed in mucopolysaccharidoses (MPS) subtypes, including MPS I, MPS IV, MPS VI, and MPS VII [1]. Visual deterioration in MPS occurs due to corneal clouding, retinopathy, glaucoma, and optic neuropathy [1]. Patients developing retinopathy may complain of a decrease in their peripheral vision and nyctalopia [3]. This can be detracted from clinically by visual loss secondary to corneal clouding. Peripheral corneal vascularization can develop in patients with MPS, due to blepharitis, exposure, or persistent corneal oedema secondary to raised IOP [5]. In patients who have MPS, the frequency of ophthalmic involvement and related visual deterioration requires careful clinical examination, optimal glasses prescription, management of raised IOP and the corneal surface, and, when corneal clouding is the cause of the visual loss, corneal transplantation. This review article aims to provide an overview of corneal clouding, its current clinical and surgical management, and noteworthy research progress
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
