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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. [ABSTRACT FROM AUTHOR]

An uncommon autosomal disease, Wilson's disease wherein excess copper gets accumulated in numerous human tissues, especially the brain, liver, and cornea of the eyes. Wilson's disease, usually believed to affect adolescents and young adults around the age of 40. There are multiple diverse clinical manifestations of Wilson's disease, but hepatic involvement and neuropsychiatric symptoms are the most prominent. The disease is degenerative, and if ignored, it can lead to liver impairment, complications with the central nervous system, and even death. Life-threatening complications and major long-term impairment may be minimized with early diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with liver and brain being primarily affected. Being a treatable disorder, early diagnosis and proper management of WD may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest that WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases with a high rate of consanguinity. Up to two-third of Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering to pre-morbid functionality with adequate therapy. [ABSTRACT FROM AUTHOR]

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with the liver and brain being primarily affected. WD being a treatable disorder, early diagnosis and proper management may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in the Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases, with a high rate of consanguinity. Up to two-third of the Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering back to pre-morbid functionality with adequate therapy. [ABSTRACT FROM AUTHOR]

Background: It is rare for hepatolenticular degeneration [Wilson's disease (WD)] to occur along with keratoconus (KC). In our report, a teenager was diagnosed with WD because of the discovery of Kayser-Fleischer (KF) ring in the cornea, and concomitant KC was found.Case Presentation: A 19-year-old male was diagnosed with KC due to a rapid decline in visual acuity within a short period of time. Ocular examination revealed the presence of ring-shaped, dense, brown sediment at the Descemet membrane of the bilateral limbus cornea, exhibiting characteristics similar to those of KF ring. Then, the patient was referred to the Department of Neurology and diagnosed with asymptomatic WD. During the next 5 years of follow-up, the patient has worn RGP lenses, routinely taken drugs that inhibit copper absorption and promote copper excretion, and maintained a low-copper diet. He has never exhibited obvious systemic symptoms associated with WD, such as neurological, mental, or hepatic dysfunction, and the color of the KF ring has grown obviously lighter. Moreover, the morphology of the cornea has stabilized.Conclusion: Only one report of WD combined with KC was found in the literature. So far, there is no evidence of a correlation between the occurrence of the two diseases. However, a low-copper diet and active copper-reducing therapy may have played a role in stabilizing the patient's condition in this case. [ABSTRACT FROM AUTHOR]

Purpose: Kayser–Fleischer ring pathognomonic for Wilson disease (WD) is formed of corneal copper deposits present predominantly within the anterior chamber angle at the Schwalbe's line. The slit‐lamp assessment commonly used as a standard of care cannot detect them early enough, as the angle view is obscured by the corneal limbus. The aim of the research was to evaluate the anterior segment optical coherence tomography (AS‐OCT), as objective diagnostic assessment of copper deposits forming KF ring in patients with WD. Methods: Twenty‐nine subjects (17 women) and twenty‐nine controls (14 women) were enrolled and underwent slit lamp and AS‐OCT assessment. Results: Kayser–Fleischer ring was not detected – either with a slit lamp or with AS‐OCT – in any of the controls. Fifteen subjects presenting without KF ring at a slit‐lamp examination were found to have a KF ring when examined with AS‐OCT (p < 0.001), which confirms improved accuracy of AS‐OCT, as compared to the slit‐lamp examination. Conclusion: Our results support AS‐OCT as a diagnostic procedure to offer better objectivity and accuracy as compared to a slit‐lamp examination, both at the diagnostic stage and when monitoring changes in KF ring during medical therapy to assess its efficacy and patient compliance. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of the study is to present anterior segment optical coherence tomography (AS-OCT) as an alternative method of evaluating Kayser-Fleischer (KF) ring in Wilson disease (WD) not only by ophthalmologists but also by other clinicians dealing with WD.Materials and Methods: This was a retrospective case series of six WD patients with KF ring. Evaluation of KF ring was done by naked eye examination using torch light, slit lamp biomicroscopy (SL), and AS-OCT. SL examination was done using a narrow slit of the superior cornea. AS-OCT was done using the Optovue RTvue PremierTM device (Fremont, CA, USA).Results: AS-OCT revealed KF ring as an intense hyperreflective band at the level of Descemet membrane (DM). Color scale of AS-OCT showed KF ring as greenish/greenish yellow/orange yellow/yellowish/red band. Validation of AS-OCT findings was done by second ophthalmologist, medical gastroenterologist, surgical gastroenterologist, and neurophysician. After seeing the first observation, they could identify the AS-OCT features in all pictures with ease.Conclusions: This is the first observation of KF ring in WD on AS-OCT. On AS-OCT, KF ring is visualized as intense hyperreflectivity at the level of DM in the peripheral cornea. Further, studies are needed to evaluate the usefulness of AS-OCT in WD management. [ABSTRACT FROM AUTHOR]

Wilson disease is a rare autosomal recessive hereditary disorder of copper metabolism. It is characterized by excessive deposition of copper in the liver, brain, and other tissues due to mutation in the Wilson disease protein (ATP7B) gene which leads to impaired copper metabolism. We report a case of eighteen-year-old male patient, who presented at the Out-Patient Department of Medicine Unit 1, Abbasi Shaheed Hospital. He presented with history of ataxia for 2 years along with abnormal spastic hand movements and difficulty in speech for the same time period. These symptoms remained static till 12 months but later progressed with multiple episodes of fall after which he was bedridden. On further investigation, eye examination on slit lamp showed Kayser-Fleischer ring, low total leukocyte count and ceruloplasmin level of 0.03 g/L. Ultrasound results showed hyperechoic hepatic parenchyma with no mass or abscess. This case is notable to emphasize the diagnostic value of ceruloplasmin for early diagnosis and to prevent chronic psychosis along with neurological symptoms. We aim to review the clinical presentation, diagnostic modalities and current treatment and also to highlight the treatment trials underway for Wilsons disease in adult patients. [ABSTRACT FROM AUTHOR]

Purpose: To study corneal copper deposits in Wilson's disease (WD) patients by traditional biomicroscopy and in vivo laser scanning confocal microscopy (LSCM). Methods: Twenty WD patients and 20 matched controls underwent an ophthalmic examination in one eye randomly chosen, including slit lamp biomicroscopy with Goldmann's three-mirror contact lens examination and LSCM, in order to evaluate copper deposits in the peripheral cornea. Results: No control subjects had corneal changes at both traditional biomicroscopy and LSCM. Only 25% of WD patients had detectable slit lamp changes, compared with 75% with LSCM examination. All cases detected by slit lamp were detected by LSCM. A significant correlation (p < 0.01) was found between deposit intensity at LSCM and daily urinary copper excretion. Conclusion: LSCM could detect copper deposition in WD corneas in more patients than traditional examination; it may therefore provide important information in cases of suspected WD diagnosis. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

A Kayser-Fleischer ring is a visible golden-brown, sometimes orange or greyish, pigmentation in the cornea. This is a common symptom of a rare genetic disorder known as Wilson Disease. This pathology is cause of a malfunction in the copper excretion from the organism. Copper accumulates in tissues and consequently is responsible of oxidative processes in the organs affected. Kayser-Fleischer ring is a direct consequence of the copper deposit in the cornea. It is considered a basic diagnostic sign of Wilson disease in individuals with neurological disorders due to copper accumulation in brain. However, few ophthalmologists are experienced in identifying Kayser-Fleischer rings. In this article, a mobile application is proposed to detect automatically the Kayser-Fleischer ring. The smartphone takes a photograph of patient's eye and sends it to a webservice. The latter performs the image processing by using a segmentation algorithm. Once a Kayser-Fleischer ring has been detected, biometric measurements provide the percentage extent of the corneal region affected by the symptom. This parameter allows the system to obtain information on the severity of the oxidative process as an indirect measure of the pathology stage. Subsequently, further medical examinations support the physician to diagnose the Wilson disease. The proposed diagnostic measurement system is non-invasive and fully automated. At the moment the detection of the Kayser-Fleischer ring is made by an ophthalmologist with a visual examination. However, the symptoms are not always recognized, and therefore interpretation errors and false-negative diagnoses are possible. In this article, a proposed diagnostic tool is described to improve the accuracy of methods used in practice and to resolve the physician's suspicion about the pathology occurrence. [ABSTRACT FROM AUTHOR]

The article presents the case of a 26-year old man with Wilson's disease who presented encephalopathy and unusual radiological features after examination, and also showed Kayser-Fleischer ring, generalized dystonia and deep tendon reflexes after motor examination.

Wilson's disease, also known as hepatolenticular degeneration, is a rare familial disorder inherited as an autosomal recessive trait with inborn error of copper metabolism leading to toxic accumulation of copper in the body particularly the liver, brain, cornea and kidney. In children, Wilson's disease (WD) presents more often with hepatic manifestations. After the age of 20 years, 75% of cases present with neurological manifestations and 25% with both hepatic and neuropsychiatric manifestations. We present a rare unusual presentation of Wilson disease in 12 year male child who presented with neuropsychiatric manifestation without hepatic involvement. [ABSTRACT FROM AUTHOR]

Kayser-Fleischer (K-F) ring seen in Wilson's disease (WD) is due to copper deposition in the Descemet's membrane in the sclero-corneal junction. Although believed to be pathognomic of WD, it may be seen in many other hepatic conditions and intraocular copper-containing foreign bodies. The K-F ring detected in pre-symptomatic cases of WD may lead to speedy diagnosis and early management. Co-relation of K-F ring in WD to the disease severity, disappearance with successful treatment, reappearance with non-compliant treatment may aid in optimum management of WD. The importance of K-F ring detection in first-degree relatives of the index case cannot be over-emphasized. [ABSTRACT FROM AUTHOR]

Analogous to the neurotoxicity markers of the Kayser-Fleischer ring in the cornea in Wilson's disease and the Burton line in the gums in chronic lead poisoning, the finding in several studies of a significant relationship between dental fluorosis and cognitive impairment indicates that dental fluorosis can be regarded as a marker for fluoride-induced cognitive impairment. As noted by Xiang et al., in the present issue of Fluoride, the prevalence of dental fluorosis can be significantly decreased by reducing the intake of fluoride and it can be anticipated that fluoride-induced neurotoxicity would be prevented by the same means. [ABSTRACT FROM AUTHOR]

Wilson's disease is an autosomal-recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper-transporting. The disease is mainly seen in children, adolescents and young adults, and is characterized by hepatobiliary, neurologic, psychiatric and ophthalmologic (Kayser-Fleischer rings) manifestations. The deposition of copper in tissues is the cause of virtually all the manifestations of the disease in Liver, Blood, Kidney and Brain. We present here a case study of Wilson's disease in 12 years old children. [ABSTRACT FROM AUTHOR]