Author information

• ¹Department of Neurology, Rothschild Foundation Hospital, 75019 Paris, France.
• ²National Reference Center for Wilson's Disease and Other Copper-Related Rare Diseases, 75019 Paris, France.
• ³Department of Ophthalmology, Rothschild Foundation Hospital, 75019 Paris, France.
• ⁴Clinical Research Center Coordinator, Rothschild Foundation Hospital, 75019 Paris, France.

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.