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Wilson hastalığı (WH), bakır metabolizmasının otozomal resesif geçişli bir bozukluğudur. Etkilenen çocuklar asemptomatik olabilir ve bu tanı koymayı zorlaştırır. Bu çalışmada WH'li hastaların klinik, laboratuvar, histopatolojik ve genetik özellikleri ve izlem sonuçlarını değerlendirmeyi amaçladık. Çalışmamıza Ocak 2010-Aralık 2020 tarihleri arasında WH tanısı konulan hastalar dahil edilmiştir. Başvuru şikayetleri, fizik muayene bulguları, akrabalık ve aile öyküsü, laboratuvar, genetik, histopatolojik değerlendirme sonuçları, tedavi ve izlem sonuçları kayıt altına alındı.18 aileden toplam 21 hasta [ortanca yaş 9,5 (1-14) yıl, 10 kız] dahil edildi. 11 (%52,4) hastada Kayser-Fleischer halkası tespit edildi. 15 hastada serum seruloplazmin (100 µg/gün idi. Bakır, 18 karaciğer biyopsisinin 9'unda rhodanin ile pozitif olarak boyandı. Karaciğer bakır içeriği tüm hastalarda >50 µg/g olup, 3 hastada 50-250 µg/g ve 15 hastada > 250 µg/g idi. 18 hastada genetik değerlendirme yapıldı ve 4 hastada ATP7B geninde heterozigot mutasyonlar, 6 hastada kombine heterozigot mutasyonlar ve 8 hastada homozigot mutasyonlar saptandı. Nörolojik bulguları olan iki hasta ve aile taraması ile tanı konulan üç asemptomatik hasta dışında, tümü karaciğer bulguları ile başvurdu. Takiplerde 2 hastada nörolojik tutulum saptandı. 16 hastada D-penisilamin ve çinko sülfat kombine tedavileri, aile taraması ile tanı konan presemptomatik bir hastaya çinko sülfat monoterapisi, nörolojik tutulumu olan dört hastada trientin ve çinko sülfat kombine tedavileri uygulandı. 15 hastada ortalama 8,3 (4-23) ayda transaminaz değerleri normale döndü. Kayser-Fleischer halkası, on bir hastanın yedisinde medyan 32,8 ayda (10-81) kayboldu. Başvuru anında fulminan karaciğer yetmezliği ile başvuran iki hastadan birine karaciğer nakli yapılırken, diğerine transplantasyona gerek kalmadan plazmaferez ve şelasyon tedavisi uygulandı. Asemptomatik transaminaz yükselmesinden akut karaciğer yetmezliğine kadar her türlü karaciğer hastalığının ayırıcı tanısında Wilson hastalığı düşünülmelidir. Erken tanı ve tedavi çok önemli olduğundan tanı konulan hastalarda aile taraması mutlaka önerilmelidir., Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Affected children may be asymptomatic, makes the diagnosis more difficult. In this study, we aimed to evaluate the clinical, laboratory, histopathological and genetic characteristics, and outcomes of the patients with WD. Our study includes patients who were diagnosed with WD between January 2010 and December 2020. The presenting complaints, physical examination findings, consanguinity and family history, laboratory, genetic, histopathological evaluation results, treatment and outcomes were all recorded. A total of 21 patients from 18 families [median age 9.5 (1-14) years, 10 girls] were included. Kayser-Fleischer ring was detected in 11 (52.4%) patients. Serum ceruloplasmin (100 µg/day in 17 patients. Copper was positively stained with rhodanine in 9 of the18 liver biopsies. Liver copper content was >50 µg/g dry weight in all patients, 50-250 µg/g in 3 patients and >250 µg/g in 15 patients. Genetic evaluation was available in 18 patients and revealed heterozygous mutations in the ATP7B gene in 4 patients, combined heterozygous mutations in 6, and homozygous mutations in 8. Except for two patients with neurological findings and three asymptomatic patients who were diagnosed by family screening, all were presented with liver findings. Neurological involvement was also detected in 2 patients during follow up. D-Penicillamine and zinc sulfate combined treatments were used in 16 patients, zinc sulfate monotherapy was given to a presymptomatic patient diagnosed with family screening, and trientine and zinc sulfate combined therapies were used in four patients with neurological involvement. Transaminase values returned to normal in a median of 8.3 (4-23) months in 15 patients. The Kayser-Fleischer ring disappeared in a median of 32.8 months (10-81) in seven out of eleven patients. While liver transplantation was performed in one of the two patients who presented with fulminant hepatic failure at admission, the other was followed up with plasmapheresis and chelation therapy without the need for transplantation. Wilson disease should be considered in the differential diagnosis of all kinds of liver diseases ranging from asymptomatic elevation of transaminases to acute liver failure. Since early diagnosis and treatment are very important, family screening should definitely be recommended in diagnosed patients.

The Kayser-Fleischer(K-F) ring is the hallmark of Wilson’s disease (WD). In most adults or older children, the diagnosis of Wilson’s disease may be made easily when K-Frings and low ceruloplasmin levels are present. In this study presence of K-F ring has been evaluated among children with liver disease in Bangladesh to improve the management of Chronic liver disease due to WD and reduce complications. This cross-sectional study was carried out at the Department of Paediatric Gastroenterology and Nutrition, BSMMU, Dhaka on 60 children presented with liver disease. Thirty children over three years of age considered as cases (Group-I) and thirty children with non- Wilsonian liver disease as control (Group-II). Slit lamp examination for K-F ring and twenty-four hour urinary copper excretion after giving one gram d-penicillamine 12-hour apart were done in each patient. The efficacy of K-F ring was studied. Mean age of WD patients was 8.9± 2.78 years, with a male female ratio of 1.3: 1. There was significant low level of serum ceruloplasmin in 93.33% of cases (p

Wilson disease is an autosomal recessive disorder based on inborn error of copper metabolism. The copper accumulates in the liver, brain, cornea, kidney, and other organs. This disease should be considered any individual with liver abnormality except infant, any patient older than teenage with neurological (especially for extra pyramidal signs) or neuropsychiatric disorder with or without liver disease and sibling of Wilson disease patient. Typically, a combination of low serum ceruloplasmine levels and high levels of urinary copper contents is sufficient to establish a diagnosis. As other diagnostic tests, measurement of hepatic copper content and ATP7B gene analysis are available. The key strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both copper-chelating agents, such as D-penicillamine or Trientine, and/or zinc acetate. The author recommend zinc acetate monotherapy for mild to moderate hepatic disorder, Trientine mono therapy for mild to moderate neurologic disorder and combination therapy of Trientine and zinc acetate for sever hepatic or neurologic disorder.

Purpose This study analyzes images of Kayser-Fleischer (K-F) rings in patients with Wilson disease (WD) using in vivo confocal microscopy (IVCM) and explores whether IVCM can be a useful clinical tool in facilitating the diagnosis and characterization of K-F rings. Methods One hundred four eyes of 52 patients with WD and K-F rings (K-F group) and 52 normal eyes of 52 age- and gender-matched control subjects (control group) were enrolled in the study. Both K-F and control groups consisted of 29 male patients and 23 female patients. IVCM imaging was performed, and images of the peripheral Descemet membrane were analyzed. Results All patients in K-F group showed abnormal patterns in the peripheral Descemet membrane from IVCM images. These abnormalities can be generally divided into 3 types: patchy, stripy, and spotty patterns. Each patient may have a combination of these patterns, with patchy pattern being most prevalent (100%), whereas stripy and spotty patterns are present in 30% to 40% of the K-F rings. Notably, these patterns are not correlated with other systematic symptoms of WD. Conclusions IVCM images can be used as an objective clinical diagnostic tool to facilitate the identification of K-F rings and the diagnosis of WD.

Wilson's disease (WD) is a rare genetic disorder of copper metabolism that often manifests several clinical signs at the time of diagnosis. Typically it affects the liver in the early stages of the disease course and tends to show neuropsychiatric involvement in the later stages. Early diagnosis of WD holds a prognostic value, and an atypical presentation of the disease adds complexities in diagnosis. Even though we need to consolidate further the treatment guidelines for managing psychiatric and neurological symptoms optimally in the patients of WD, identifying signs at the early stages of the disease is crucial to avoid its detrimental effects on the human body. In this case presentation, a patient with no family history of psychiatric condition showed an early onset of neuropsychiatric symptoms without any other clinical signs of WD. Through this clinical case, we emphasize the importance of ruling out WD in patients that predominantly presents with psychiatric symptoms as a lone symptom. It also highlights the possible diagnostic value and significance of the ceruloplasmin level in identifying WD disease in early stages, when other clinical signs are absent, including liver abnormalities.

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.

ZusammenfassungMorbus Wilson ist eine seltene genetische Erkrankung des Kupferstoffwechsels, die zu einer erhöhten Kupferansammlung im Körper führt. Ablagerungen finden sich vor allem in Leber, zentralem Nervensystem, Niere und Auge. Unbehandelt kann die Erkrankung zu Bewegungsstörungen, Persönlichkeitsveränderungen, Leberversagen bis hin zum Tod führen. Differenzialdiagnostisch kommen viele Erkrankungen infrage. Eine Diagnosefindung ist nur durch spezifische Testverfahren möglich. Der Augenarzt hat somit eine besondere Rolle in der Früherkennung eines Morbus Wilson. In unserer Klinik stellte sich eine 19-jährige Patientin mit einem schwachen, im Verlauf entstehenden Kayser-Fleischer-Kornealring mit sonst unauffälligem ophthalmologischen Befund vor. Die Patientin hatte ein progredientes Leberversagen und erhielt 2 Monate nach Erstvorstellung in der Augenklinik eine Lebertransplantation. Eine frühzeitige augenärztliche Mitbeurteilung mit gründlicher Untersuchung ist von entscheidender Bedeutung für eine schnelle Diagnosestellung. Die Kupferablagerungen finden sich in der Descemet-Membran und beginnen in der Schwalbe-Linie. Der sog. Kayser-Fleischer-Ring zeigt sich an der Descemet-Membran bis zu 5 mm vom Limbus entfernt. Andere mögliche ophthalmologische Manifestationen stellen eine Chalkose der gesamten Descemet, ein Ikterus der Skleren oder eine Sonnenblumenkatarakt dar. Bei fehlenden Kupferablagerungen im Spaltlampenbefund sollte bei einem Verdacht auf einen Morbus Wilson immer auch eine Gonioskopie des Kammerwinkels erfolgen. Eine frühe Diagnosestellung kann Patienten vor unnötigen Komplikationen und Operationen schützen. Behandelt hat der Morbus Wilson eine gute Prognose.

Background: Wilson’s disease is an autosomal recessive disorder due to mutation in ATB 7B gene, which is a membrane-bound copper-transporting ATPase. The impaired excretion of copper results in an increase in serum levels and accumulation of copper in the body. Various signs can be observed in liver, nervous system, kidneys, eyes, heart. There are also changes in blood chemistry. Objective: A forty-six-year-old female patient presents with Wilson’s disease in the treatment rooms at the Faculty of Dentistry in Plovdiv. She needs complete dental care. She has also had an ischaemic stroke. Methods and results: As the treatment plan started with extraction, of teeth under local anesthesia, a complete blood count and INR test were performed. Oral mucosa and bone were obtained by biopsy for evidence of pigments in these tissues. The biopsy results showed accumulation of copper in them as well. Conclusion: It’s a rare disorder, approximately 1 in 40 000, severely affecting the liver and nervous system. It requires in-depth analysis and discussion over the clinical and paraclinical approach with a view to avoid possible complications and achieve the desired results.

Purpose To present anterior segment optical coherence tomography (AS-OCT) findings of the Kayser-Fleischer (KF) ring in Wilson disease (WD) and to discuss the potential advantages of evaluating the KF ring by AS-OCT. Methods This is a retrospective case series of 7 patients with WD with KF rings seen in our institute during the study period (August 2015 to June 2016). All patients underwent slit-lamp examination of the cornea and AS-OCT (Optovue RTVue Premier). In 2 patients, the length of the KF ring was measured using the gray scale of AS-OCT. Results The KF ring on the gray scale of AS-OCT was visualized as a hyperreflective deep corneal layer at the level of Descemet membrane in all eyes. The OCT color scale revealed the KF ring as a greenish, greenish-yellow, yellow, or yellow-orange band. The gray scale of AS-OCT could easily measure the length of the KF ring in patients 6 and 7. Conclusions AS-OCT is an alternative method of evaluating the KF ring in WD, which can be used in combination with slit-lamp examination. The KF ring can be easily measured using the gray scale of AS-OCT. Further studies are required to study the potential advantages of AS-OCT including assessing the density of the KF ring, as a tool to assess response to treatment in WD, in differentiating the KF ring of WD disease from copper deposits in other situations and pigmented corneal rings in non-Wilsonian liver disease.

Purpose:The purpose of this study was to investigate the use of anterior segment imaging in diagnosing Kayser-Fleischer rings in patients with Wilson disease.Methods:In a tertiary center for Wilson disease, patients were examined with a Pentacam HR Scheimpflug-based tomography device in addition to conventional slit-lamp examination. The inferior part of the cornea was analyzed using both a built-in densitometry module and ImageJ.Results:Thirty-one patients with Wilson disease (78% of all Danish patients) were included, resulting in 83 examinations over a 5-year period. Ten had a manifest Kayser-Fleischer ring in the inferior part of the cornea on at least 1 examination, 5 had other causes of peripheral corneal scatter, and 16 had normal examinations. The built-in densitometry module performed poorly in discriminating between the presence and absence of a Kayser-Fleischer ring. However, analysis of the images in ImageJ and calculation of a normalized signal (peak posterior value/peak anterior value) with a cutoff value set to 1 detected 28 of 31 Kayser-Fleischer rings and resulted in 96% sensitivity and 95% specificity. In 12 patients who underwent 3 or more examinations during the period, changes in the normalized signal seemed to reflect the efficiency of the treatment, although more studies are needed for this conclusion.Conclusions:ImageJ-based analysis of Pentacam images has a high sensitivity in detecting Kayser-Fleischer rings and can be used as a diagnostic procedure for Wilson disease and may be a tool to monitor the disease in an objective manner.

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

Wilson disease is an autosomal recessive disorder of copper metabolism that causes hepatic, neurologic, and psychiatric abnormalities. The ATP7B gene is impaired causing elevated levels of copper in the liver as well as other tissues. The diagnosis should be suspected in juveniles and adults with liver or neurologic manifestations. Diagnostic evaluation includes checking serum ceruloplasmin, 24-h urine for copper, ophthalmologic evaluation for Kayser-Fleischer rings, and possible liver biopsy. Medical treatment includes the copper chelators, penicillamine, and trientine, as well as zinc. Wilson disease is a treatable disorder that requires lifelong treatment.

Wilson's disease is a copper toxicosis characterized by an overload in tissue copper (mainly hepatic, cerebral and pericorneal). It is caused by ATP7B mutations which incorporate copper into ceruloplasmin in the liver and pass out excess copper into the bile. This disease can be adequately treated if diagnosed early. The challenge is to diagnose it in the early stage of liver disease, before it becomes multisystemic. We report the case of a 19-year old female patient with Wilson's disease with multisytemic involvement: mucocutaneous pallor, intermittent hand tremor, that started when she was 16 years, hepatitis complicated by ascites, neurological disorder, such as postural tremor of the arms and the legs. Ophthalmologic examination using the slit-lamp showed Kayser-Fleischer ring in both eyes (A,B) which is a copper deposit in the peripheral corneal endothelium, more precisely on the border area between the cornea and the sclera (C). Laboratory tests showed low ceruloplasmin levels (0.03 g/L), cupremy 0.4 mg/l and urinary copper excretion 11.6 μmol. Brain MRI revealed generalized signal change, gliosis and atrophy of the thalamus and of the brainstem.

Wilson’s disease (WD) is an inherited autosomal recessive disease results due to deficiency of ceruloplasmin leading to copper deposition mainly liver, brain and cornea. This accumulation can cause liver cirrhosis, ataxia and kayser Fleischer ring (KF) in cornea. I present a case of 21-year-old primigravida diagnosed WD 3 years back on treatment with Zinc was referred to our hospital for elective caesarean section (CS). She had thrombocytopenia, extrahepatic portal vein obstruction with hypersplenism and mild ascites. She has undergone CS under general anaesthesia (GA) with successful outcome. The anaesthetic management in presence of hepatic dysfunction and thrombocytopenia was challenging and there are only few case reports on WD patients undergoing CS under GA.

The presence of Kayser-Fleischer ring in patients with Wilson's disease (WD) is well documented and included in diagnostic algorithms; however, data about the occurrence of the second postulated ophthalmological sign of WD, sunflower cataract (SC), are limited and even conflicting. The aim of our study was to verify the occurrence of SC in WD. From January 2010 to May 2015, 81 consecutive, newly diagnosed WD patients underwent detailed ophthalmological examinations, including slit lamp examination with special attention to lens transparency, to verify the presence of SC in WD-naive patients. SC was detected in only one (1.2 %) of the examined WD patients, did not impact visual acuity; moreover, completely disappeared following a year of treatment for WD. SC may be a very rare and reversible ophthalmological manifestation of WD that is observed seldom and only at the time of WD diagnosis. We postulate that a finding of SC in WD patients is an interesting finding that may occur in the course of WD, but it is not a pathognomonic sign of WD.

Wilson’s disease is a hereditary disorder of copper metabolism which is characterized by neuropsychiatric and hepatic manifestations as well as appearance of Kayser-Fleischer ring. This is a retrospective review of the records of the patients of Wilson’s disease who attended Neuro-ophthalmic clinic for the identification of Kayser-Fleischer (K-F) ring from January2010 to June 2012. Detailed eye examination included visual acuity assessment, slit lamp biomicroscopy and intra-ocular pressure measurement. Data regarding clinical features, laboratory investigations and the status of K-F ring was recorded. Seven cases of Wilson’s disease with age range of 9-15 years were included in the study. Among them four (57.1%) had neuropsychiatric symptoms, two (28.5%) had hepatic disease and one (14.3%) was asymptomatic, diagnosed by positive family history and laboratory tests. Among four subjects having K-F ring, three (75%) subjects had neuropsychiatric symptoms and one subject had hepato-billiary disease. Besides K-F rings, other ophthalmic findings were sunflower cataract (14.3%) and vernal keratoconjuctivitis (14.3%). The identification of K-F ring is a simple and cost effective screening test for the diagnosis of Wilson’s disease. K-F is present in majority of the patients with neurological manifestations. DOI: http://dx.doi.org/10.3126/jcmc.v4i3.11934Journal of Chitwan Medical College 2014; 4(3): 17-20

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.

Wilson disease (WD) is a neurodegenerative disorder, which presents as a spectrum of neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia, together with a combination of neurologic symptoms that can easily lead to misdiagnosis. An early diagnosis of WD, and appropriate anticopper treatment, usually leads to a marked improvement in patient health. Conversely, delayed diagnosis can result in persistent pathology, which, left untreated, can ultimately prove lethal. The aim of this chapter is to present a detailed description of the neurologic features of WD, including their evaluation, together with relevant ophthalmologic examinations, brain neuroimaging, and other laboratory measurements that show the extent of the involvement of the nervous system.

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 provid...

Aims To evaluate Wilson's disease (WD) features in Sardinian patients with Kayser–Fleischer (KF) ring and to evaluate correlations between modifications in KF and anti-copper therapy and systemic WD evolution. Patients and methods Sixty-seven WD patients (35 m/32 f; mean age 41 years) were retrospectively studied. At diagnosis and during follow up comprehensive ophthalmologic and neurologic examinations, brain RMN and ECD SPECT, detailed objective laboratory studies and hepatic histological examination were performed on all patients for analysis. All patients were given anti-copper therapy with d -Penicillamine in mono-therapy or in combination with Zinc Salts. Results At diagnosis, KF was observed in 27% of patients with equal distribution in all age groups. Significant correlations between KF at diagnosis, neuro-psychiatric manifestations and pathologic features in brain RMN and in brain ECD SPECT were found at diagnosis. During follow up, a decrease in, or regression of KF was seen in 14% of patients. Anti-copper therapy leads to KF regression and prevents the appearance of KF. No significant correlations were observed between KF regression and clinical neurological or neuro-imaging improvement nor between KF modifications and clinical hepatic improvement. Conclusions Our study highlights the peculiar features of Sardinian WD patients: low representation of KF, its equal distribution in all age groups, significant correlation between KF at diagnosis and clinical neurological manifestations, pathologic brain RMN and brain ECD-SPECT are highlighted by our study. Anti-copper therapy induces KF regression and prevents its onset. Therefore, KF ring does appear to be a predictive factor in the neurological and hepatic evolution of WD.

Ophthalmologists usually use slit lamp biomicroscopy to look for Kayser-Fleischer rings in Wilson's disease; anterior segment optical coherence tomography is a new alternative to identify the characteristic hyper-reflective layer in the deep corneal periphery at the level of Descemet's membrane. This method allows non-ophthalmologists to look for and to quantify Kayser-Fleischer rings.

Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver, the brain and the eye. Because effective treatment is available, it is important to make this diagnosis early. We report a patient who developed features of neurological and ocular manifestations: incoordination and tremor and blurring of vision with presence of Kayser-Fleischer ring circling the cornea but no signs of hepatic dysfunction. DOI: http://dx.doi.org/10.3126/jcmc.v4i2.10866 Journal of Chitwan Medical College 2014; 4(2): 51-54

We report of a 19-year-old man complaining of clumsy gait, drooling of saliva, difficulty in speech, and behavioral changes who underwent ophthalmic examination and was diagnosed with a rare case of Wilson disease: Kayser-Fleischer ring and unilateral hypertrophy of retinal pigment epithelium.

A 19-year-old woman presented with Kayser-Fleischer ring in her corneas and sunflower cataracts in both eyes. There were no coexisting neurologic or hepatic symptoms, both brain magnetic resonance imaging (MRI) and abdominal echo showed minimal changes. Serum copper concentration (Cu) and ceruloplasmin were abnormal, and 24-hour urine collection showed abnormally high levels of copper (348.0 μg/day). A diagnosis of Wilson disease was made. We report the interesting case of rare manifestations of Wilson disease; initially with ocular presentations without neurologic symptoms. Early detection and treatment of Wilson disease is possible in patients with only ocular manifestations, and can prevent a catastrophic sequel.

Progressive hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism. Knowledge of the clinical presentations and treatment of the disease are important both to the generalist and to specialists in gastroenterology and hepatology, neurology, psychiatry, and paediatrics. Wilson's disease invariably results in severe disability and death if untreated. The diagnosis is easily overlooked but if discovered early, effective treatments are available that will prevent or reverse many manifestations of this disorder. Studies have identified the role of copper in disease pathogenesis and clinical, biochemical, and genetic markers that can be useful in diagnosis. There are several chelating agents and zinc salts for medical therapy. Liver transplantation corrects the underlying pathophysiology and can be lifesaving. The discovery of the Wilson's disease gene has opened up a new molecular diagnostic approach, and could form the basis of future gene therapy.

A 41-year-old man with liver cirrhosis of unknown aetiology for 6 years was admitted to our department to confirm the diagnosis of Wilson9s disease. He consulted an ophthalmologist who suspected the presence of a sunflower cataract and Kayser–Fleischer ring. At admission, his liver function tests were modestly impaired (Child–Pugh C, 10 pts). Neurological examination was normal, but cognitive functions were mildly impaired. Based on the copper metabolism abnormalities and clinical manifestation, we diagnosed Wilson9s disease (Ferenci score, 6 pts) and started treatment with d-penicillamine. Presenting the case we would like to emphasise the significance of the ophthalmological examination in Wilson9s disease diagnosis.

Situs inversus is a positional anomaly that rotates the abdominal internal visceria and when it is associated with transposition of the thoracic organs it is called situs inversus totalis. Wilson disease (or hepatolenticular degeneration) is an autosomal recessive hereditary disease of human copper metabolism, which causes hepatic and neuropsychiatric symptoms. We describe a case report of situs inversus totalis with Wilson disease, which is the first case to our knowledge, Situs inversus abdominal organların rotasyonuyla giden pozisyonel bir anomali olup torasik organ transpozisyonu da eklendiğinde hastalık situs inversus totalis olarak adlandırılmaktadır. Wilson hastalığı (hepatolentiküler dejenerasyon) hepatik ve nöropsikiatrik semptomlara neden olan otozomal resesif kalıtılan bakır metabolizması hastalığıdır. Bu olgu sunumunda Wilson hastalığı ile situs inversus totalis birlikteliği gösteren ve literatüre göre ilk vaka olan bir olgu tanımladık

Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is straightforward, it may be quite difficult in non-neurologic cases. Up to now, no single diagnostic test can exclude or confirm Wilson disease with 100% certainty. In 1993, the gene responsible for Wilson disease was cloned and localized on chromosome 13q14.3 (MIM277900) (1, 2). The Wilson disease gene ATP7B encodes a P-type ATPase. More than 200 disease causing mutations of this gene have been described so far (3). Most of these mutations occur in single families, only a few are more frequent (like H1069Q, 3400delC and 2299insC in Caucasian (4-6) or R778L in Japanese (7), Chinese and Korean patients). Studies of phenotype-genotype relations are hampered by the lack of standard diagnostic criteria and phenotypic classifications. To overcome this problem, a working party discussed these problems in depth at the 8th International Meeting on Wilson disease and Menkes disease in Leipzig/Germany (April 16-18, 2001). After the meeting, a preliminary draft of a consensus report was mailed to all active participants and their comments were incorporated in the final text.

This report presents anterior segment optical coherence tomography (AS-OCT) images of Kayser-Fleischer ring (KFR) in a child. The AS-OCT images highlight differential reflectivity of the KFR depending on amount of copper deposited in cornea, thus supporting the role of AS-OCT as a follow-up tool. Utility of AS-OCT for diagnosing and documenting the KFR in children otherwise uncooperative for detailed slit lamp examination is discussed.

In patients with Wilson's disease presenting with liver involvement, the correct diagnosis is often missed or delayed. The aim of this study was to find an algorithm for diagnosis of this difficult patient group.Clinical and laboratory findings of 55 patients with Wilson's disease were evaluated at diagnosis before treatment. Presenting symptom was chronic liver disease in 17 patients, fulminant hepatic failure in 5 patients, hemolysis in 3 patients, and neurological disease in 20 patients, and 10 patients were detected by family screening (siblings). Evaluation included neurological and ophthalmologic examination, routine laboratory tests, and parameters of copper metabolism including liver copper content in 43 liver biopsy specimens.In the whole group, serum ceruloplasmin level was20 mg/dL in 73%, urinary copper excretion was increased in 88%, and liver copper content was elevated in 91% at diagnosis. Kayser-Fleischer rings were detected in 55%. In contrast to patients with neurological disease (90% Kayser-Fleischer rings, 85% low ceruloplasmin), only 65% of patients presenting with liver disease were diagnosed by these typical findings. Ceruloplasmin levels were lower in patients with Kayser-Fleischer rings or with neurological disturbances than in patients without these symptoms.The commonly used clinical and laboratory parameters are not sufficient to exclude the diagnosis of Wilson's disease in patients with liver disease of unknown origin.

In the paper the authors propose an image processing algorithm for detection of Kayser-Fleischer ring in eye 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. So copper accumulates in tissues being responsible of oxidative processes in the organs affected. Copper deposit in the cornea is visible as a golden-brown, sometimes orange or greyish, pigmentation called Kayser-Fleischer ring. So it is considered a diagnostic sign of Wilson disease more than ever in individuals with neurological disorders. The proposed algorithm is based on an image processing approach. In detail, eye image is analyzed by means of a segmentation algorithm to detect the Kayser-Fleischer ring. The proposed screening method is non-invasive and automated. The innovative diagnostic tool aims to improve accuracy of actual methods used in practice. So the described technique reduces possible interpretation errors and assists doctor to diagnose the pathology.

Wilson’s Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser – Fleischer ring. Here, we are reporting two siblings who were affected by Wilson’s disease, with only neurological manifestations, without any hepatic involvement.

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.

This article discusses the diagnosis and treatment methods for Wilson's disease. Virtual Mentor is a monthly bioethics journal published by the American Medical Association.

A 24-year old female with ocular changes (Kayser-Fleischer ring and sunflower cataract) indicating Wilson's disease was followed up from 9 years of age with anterior eye segment image documentation by Scheimpflug photography. A low copper diet and systemic D-penicillamine were administered after the initial diagnosis of Wilson's disease. During a 15-year follow-up period, the yellowish/brown-colored granular opacification on the anterior lens capsule and/or in the capsule has mostly disappeared and instead, the same type of opacification has emerged on the posterior lens capsule, showing rather progressive changes compared with the initial findings. These changes which had developed in the lens during the past 15 years were difficult to detect by slit lamp examination alone, but they were clearly revealed by Scheimpflug slit images. To our knowledge this is the first case report on ocular changes disclosed through the application of a newly developed anterior eye segment examination. Ergo, Scheimpflug photography is valuable for follow-up studies of ocular complications seen in patients with Wilson's disease.