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Published in: International Ophthalmology 6/2019

01-06-2019 | Case Report

The ophthalmic diagnosis and management of four siblings with Werner syndrome

Authors: C. Lyons, D. Gallagher, T. McSwiney, E. McElnea, F. Kinsella

Published in: International Ophthalmology | Issue 6/2019

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Abstract

Introduction

Werner syndrome is a rare autosomal recessive disorder caused by mutations in the Werner syndrome WRN gene, on chromosome 8. Those affected manifest early the features of ageing.

Discussion

Cataract surgery is prone to post-operative complications in those with Werner syndrome. The development of cystoid macular oedema (CMO) is likely multifactorial. Patients with WS have diabetes mellitus type 2 which can contribute to macular oedema. There is a deposition of abnormal WRN proteins in the macula which also predisposes to macular oedema. The trauma of cataract surgery appears to be the main stimulus for the development of CMO. CMO may, as a result, be difficult to manage in Werner syndrome patients.

Conclusion

Further study is needed to elucidate the precise role of retinal WRN protein expression in the development of CMO in those with Werner syndrome. A tailored and more successful approach to the treatment of CMO in such patients may result.
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Metadata
Title
The ophthalmic diagnosis and management of four siblings with Werner syndrome
Authors
C. Lyons
D. Gallagher
T. McSwiney
E. McElnea
F. Kinsella
Publication date
01-06-2019
Publisher
Springer Netherlands
Published in
International Ophthalmology / Issue 6/2019
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI
https://doi.org/10.1007/s10792-018-0929-8

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