Bilateral penetrating keratoplasty revealed advanced glaucoma in a case of mucopolysaccharidosis type VI

Abstract

Introduction: We report a case of a patient with mucopolysaccharidosis (MPS) type VI disease who underwent bilateral penetrating keratoplasty. The insight into deeper ocular structures after successful keratoplasty enabled the diagnosis of glaucoma. Case Report: A 24-year-old male patient with genetically confirmed MPS VI disease was referred for ophthalmological co-assessment to our Department of Ophthalmology. The patient presented with low visual acuity of 6/200 in both eyes, and increased corneal thickness. The bilateral intraocular pressure was difficult to evaluate in association with the corneal thickness and rigidity. Due to total corneal opacification bilateral penetrating keratoplasty was performed. The successful keratoplasty allowed proper funduscopy and further diagnostic measurements leading to the diagnosis of advanced glaucoma. Conclusion: Although MPS VI is an orphan disease, intravenously applied enzyme replacement therapy with galsulfase has been established as a successful treatment. However, systemically administered therapy with galsulfase does not reduce or affect ocular symptoms and manifestations. The case demonstrates the high impact of early and regularly ophthalmic co-assessment in MPS VI patients, especially keeping in mind that not only corneal involvement can be present in MPS patients. Further-more, preservation of visual acuity is of high importance for participating in social and professional life.