Full text

Turn on search term navigation

© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Wilson’s disease (WD) is an autosomal recessive genetic disorder due to a mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and accumulation in various tissues. Ocular findings are one of the hallmarks of the disease. Many ophthalmological manifestations have been described and new techniques are currently available to improve their diagnosis and to follow their evolution. We have performed a systematic PubMed search to summarize available data of the recent literature on the most frequent ophthalmological disorders associated with WD, and to discuss the newest techniques used for their detection and follow-up during treatment. In total, 49 articles were retained for this review. The most common ocular findings seen in WD patients are Kayser–Fleischer ring (KFR) and sunflower cataracts. Other ocular manifestations may involve retinal tissue, visual systems and eye mobility. Diagnosis and follow-up under decoppering treatment of these ocular findings are generally easily performed with slit-lamp examination (SLE). However, new techniques are available for the precocious detection of ocular findings due to WD and may be of great value for non-experimented ophthalmologists and non-ophthalmologists practitioners. Among those techniques, anterior segment optical coherence tomography (AS-OCT) and Scheimpflug imaging are discussed.

Details

Title
Eye Involvement in Wilson’s Disease: A Review of the Literature
Author
Chevalier, Kevin 1   VIAFID ORCID Logo  ; Mauget-Faÿsse, Martine 2   VIAFID ORCID Logo  ; Vasseur, Vivien 3   VIAFID ORCID Logo  ; Azar, Georges 2   VIAFID ORCID Logo  ; Obadia, Michaël Alexandre 1 ; Poujois, Aurélia 1 

 Department of Neurology, Rothschild Foundation Hospital, 75019 Paris, France; [email protected] (K.C.); [email protected] (M.A.O.); National Reference Center for Wilson’s Disease and Other Copper-Related Rare Diseases, 75019 Paris, France 
 Department of Ophthalmology, Rothschild Foundation Hospital, 75019 Paris, France; [email protected] (M.M.-F.); [email protected] (G.A.) 
 Clinical Research Center Coordinator, Rothschild Foundation Hospital, 75019 Paris, France; [email protected] 
First page
2528
Publication year
2022
Publication date
2022
Publisher
MDPI AG
e-ISSN
20770383
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2663018274
Copyright
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.