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Case Report
Bilateral penetrating keratoplasty revealed advanced glaucoma in a case of mucopolysaccharidosis type VI
1 Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
2 Department of Ophthalmology, Hanusch Hospital, Heinrich-Collin-Strasse 30, Vienna, Austria
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Christoph Spartalis
MD, Department of Ophthalmology, Hanusch Hospital, Heinrich-Collin-Strasse 30, 1140 Vienna,
Austria
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Article ID: 100031Z17CS2022
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Spartalis C, Dulz S, Atiskova Y. Bilateral penetrating keratoplasty revealed advanced glaucoma in a case of mucopolysaccharidosis type VI. J Case Rep Images Opthalmol 2022;5(2):11–15.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.
Keywords: Glaucoma, Keratoplasty, MPS VI, Mucopolysaccharidosis type VI
SUPPORTING INFORMATION
Author Contributions
Christoph Spartalis - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Simon Dulz - Acquisition of data, Revising it critically for important intellectual content, Final approval of the version to be published
Yevgeniya Atiskova - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Christoph Spartalis et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
