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Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic metabolic disorder that leads to excessive accumulation of copper in the body, particularly in the liver and brain. This results in the gradual damage of these organs and leads to a variety of clinical symptoms. The symptoms of Wilson's disease can be diverse, leading to a broad spectrum of clinical manifestations including fatigue, jaundice, hand tremors, mood disorders, difficulty walking, speech disturbances, as well as neurological and psychiatric issues.The treatment of Wilson's disease typically involves the oral administration of copper-chelating agents, which help the body to eliminate the excess copper. In some cases, symptomatic treatment related to liver or brain damage may also be necessary. The diagnosis of Wilson's disease is based on laboratory tests, imaging studies (such as MRI or CT scans), and the assessment of clinical symptoms. Due to the variety of symptoms, patients are often misdiagnosed, and untreated Wilson's disease inevitably leads to death. Genetic testing can also be useful in confirming the diagnosis. Although Wilson's disease is a chronic condition, with appropriate treatment and monitoring, its symptoms can be effectively managed, and further damage to the liver and brain can be prevented. Regular monitoring of copper levels in the blood, as well as liver and brain function, is crucial for the effective management of Wilson's disease.

Patients suffering from Wilson’s disease accumulate copper in their body. Copper load may become visible as Kayser-Fleischer (KF) rings - colorful copper-sulfur granules in the base of the cornea. Reoccurrence of KF rings in patients under anti-copper medication may be a sign for ineffective treatment. This work proposes a hand-held sensing system based on infrared reflectivity measurement of the cornea as a potential method for regular at-home progression monitoring. The intensity of the LEDs used is safe for operation on the human eye. As proof of concept, reflectivity was measured when placing the sensor onto samples of white paper that had copper tape of different sizes centered within the sensitive area. Further, reflectivity was determined for different solutions of copper sulfate in saline that were poured into adapter bowels fitting the sensor head, with Cu2+ concentrations of the samples deducted from literature. While the prototype system can be used to differentiate between two copper strips of 6 and 12 mm2 or larger, a different measuring principle would be needed to also determine the concentration of copper sulfate solutions. Since these two in-vitro models cannot fully represent the complex in-vivo molecular conditions of patients’ corneas, additional measurements on patients’ eyes are necessary to evaluate the potential of the proposed sensing system.

Wilson’s disease, also called hepatolenticular degeneration, has varied clinical manifestations and poses diagnostic challenges. Kayser-Fleischer ring, when present, is considered pathognomic of Wilson’s disease. Although its presence is most commonly seen with the neuro-psychiatric form of the disease, it can also be present in hepatic form and asymptomatic patients. We report a case of unilateral Kayser-Fleischer ring in the normal, functional eye of a patient which subsequently led to the diagnosis of Wilson’s disease in the patient. This case also highlights the examination of the normal appearing eye in all the patients presenting with complaints in only one eye.

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.

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Abstract Background To investigate the topographic measurements and densitometry of corneas in Wilson’s disease (WD) patients with or without a Kayser-Fleischer ring (KF-r) compared to healthy individuals. Methods This cross-sectional study included 20 WD patients without a KF-r (group I), 18 WD patients with a KF-r (group II), and 20 age-matched controls (group III). The Pentacam high resolution imaging system is used to determine corneal topographic measurements and densitometry. Results Mean age for groups I, II and III was 25.40 ± 6.43 years (14–36 years), 25.38 ± 6.96 years (16–39 years), 23.60 ± 6.56 years (17–35 years), respectively (P = 0.623). There was no significant difference between the groups in terms of the anterior corneal densitometry values (P > 0.05), while the 6–10 mm and 10–12 mm mid stroma and the 2–6 mm, 6–10 mm, and 10–12 mm posterior corneal densitometry values in group II were significantly higher than those in groups I and III (for all values, P

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]

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.

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]

Abstract 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.

Wilson's disease is a genetic neurometabolic disorder affecting copper metabolism in the body. It occurs due to mutations in the ATP7B gene. Here, we report a case of a 12-year-old boy, born out of a second-degree consanguineous marriage, who presented with complaints of jaundice for the past one year, poor scholastic performance, and behavioral abnormalities for the past one month. There was a history of multiple suicides in the maternal family, and liver disorder in the maternal uncle. Various examinations revealed jaundice, Kayser-Fleischer ring in eyes, and dystonia of the extremities with hepatosplenomegaly. Copper studies were inconclusive, and neuroimaging showed characteristic findings specific for Wilson's disease. The child was treated with a low-copper diet, vitamin K, oral zinc acetate, oral D-penicillamine, trihexyphenidyl, baclofen, clonazepam, and propranolol., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, D et al.)

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]

Wilson's disease (WD), or "hepato-lenticular degeneration," is a rare genetic disorder of autosomal recessive inheritance causing toxic tissue accumulation of copper, mainly in the liver, brain, and cornea. Its phenotypic and genotypic heterogeneity characterizes it. This study aimed to clarify the clinical features and spectrum of Wilson's disease in children from the eastern region of Morocco and to study the evolutionary profile and survival in this population while discussing and highlighting the various diagnostic and therapeutic difficulties encountered in the management of WD in our context. This retrospective study encompassed 24 children diagnosed with Wilson's disease, selected from the gastroenterology-hepatology and pediatric nutrition units at Mohamed VI University Hospital in Oujda, Morocco, over a span of nine years, from January 2015 to November 2023. Our series results show 14 boys and 10 girls; the median age of discovery was 11 years, with extremes ranging from 18 months to 15 years. The consanguinity was found in 13 patients. Clinically, the edemato-ascitic syndrome was noted in 14 patients with an alteration of the general state; icterus was found in 13 patients; signs of portal hypertension were present in six patients; and neurological signs in seven cases. Skin manifestations occurred in three cases, and arthralgia in three cases. Six children were diagnosed on the occasion of a family screening. Biologically, hepatic cytolysis was found in 20 patients, with signs of hepatocellular failure in 15 cases. Hemolytic anemia was present in nine patients. Ceruloplasminemia was decreased in 21 patients and cupremia in 19 patients. Cupruria was increased in 22 cases. The Kayser-Fleicher ring was found in 10 cases. Abdominal ultrasound showed ascites in 16 patients, hepatomegaly in 1, splenomegaly in two cases, hepatosplenomegaly in five cases, and cirrhosis in two. MRI showed signal abnormalities in 11 patients. Therapeutically, D-penicillamine was initially introduced in 18 patients and zinc acetate in 6 patients. The evolution was favorable for 15 patients still followed up in the department. Three patients died of hepatocellular failure, and two died of hepatic encephalopathy. Four patients were lost to follow-up., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Rkain et al.)

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]

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: 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.

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]

Background: Wilson disease (WD) is the most common genetic metabolic liver disease. Some studies have shown that comorbidities may have important effects on WD. Data on hepatitis B virus (HBV) infection in patients with WD are limited., Aim: To investigate the prevalence and clinical impact of HBV infection in patients with WD., Methods: The clinical data of patients with WD were analyzed retrospectively, and the data of patients with concurrent WD and HBV infection were compared with those of patients with isolated WD., Results: Among a total of 915 WD patients recruited, the total prevalence of current and previous HBV infection was 2.1% [95% confidence interval (CI): 1.2%-3.0%] and 9.2% (95%CI: 7.3%-11.1%), respectively. The main finding of this study was the identification of 19 patients with concurrent WD and chronic hepatitis B (CHB) infection. The diagnosis of WD was missed in all but two patients with CHB infection. The mean delay in the diagnosis of WD in patients with concurrent WD and CHB infection was 32.5 mo, which was significantly longer than that in patients with isolated WD (10.5 mo). The rates of severe liver disease and mortality in patients with concurrent WD and CHB infection were significantly higher than those in patients with isolated WD (63.1% vs 19.3%, P = 0.000 and 36.8% vs 4.1%, P < 0.001, respectively). Binary logistic regression analysis revealed a significantly higher risk of severe liver disease at the diagnosis of WD in patients with current HBV infection [odds ratio (OR) = 7.748; 95%CI: 2.890-20.774; P = 0.000)] or previous HBV infection (OR = 5.525; 95%CI: 3.159-8.739; P = 0.000) than in patients with isolated WD., Conclusion: The total prevalence of current HBV infection in patients with WD was 2.1%. The diagnosis of WD in CHB patients is usually missed. HBV infection is an independent risk factor for severe liver disease in WD patients. The diagnosis of WD should be ruled out in some patients with CHB infection., Competing Interests: Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article., (©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.)

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]

Abstract: The dense accumulation of copper in Descemet membrane and lens capsule is the characteristic manifestation of a circulating monoclonal antibody with strong affinity for copper. The overproduction of this monoclonal immunoglobulin may be associated with either multiple myeloma or a benign monoclonal gammopathy. Despite prolonged exposure to elevated serum copper, no other tissues in the body are adversely affected by this redox metal. We describe the clinical and pathological findings in a 46-year-old woman with this disorder. [Copyright &y& Elsevier]

Purpose. – Wilson’s disease is characterized by neuropsychiatric symptoms with frequent extrapyramidal and intellectual presentations. They have an insidious evolution that leads to a late diagnosis and less therapeutic effectiveness in the advanced forms.Methods. – We report 21 cases of Wilson’s disease with neurological complications, emphasizing clinical semiology, diagnostic means and problems of the therapeutics in our country.Results. – The average age at the beginning of the disease was 17.6 years, with a female prevalence (8/13). The signs at first were mostly all neurological (71,4 %), then psychiatric (19 %) or hepatic (19 %). The most common neurological signs were dystonia of members (81 %), dysarthria (76 %), tremors (76 %) or disorders of motoricity (71,4 %). Sometimes there were sialorrhea or disorders of the handwriting. The Kayser-Fleischer ring was present in 19 patients. Eighteen patients had clinical and/or biological hepatic involvement. The diagnosis was confirmed by biochemical examinations, which found a low rate of copper in blood, a sinking rate of ceruloplasmin and a very high rate of urinary copper. The cerebral computer tomography shows a cortical and/or subcortical atrophy (37 %), and/or a low density of the central grey cores (35 %). The treatment was based on D-penicillamine and/or zinc sulfate, according to the availability of the drugs. The evolution was favourable among 18 patients (85 %) and not good in 42,8 % of the cases. Six of the first patients had poor evolution after many years of follow-up. Finally, only 12 patients (57 %) had a very good outcome. The family investigation made among 17 patients revealed 13 family cases. The only predictive factor of a poor evolution was the therapeutic noncompliance (P = 0.006).Conclusions. – The neurological presentations are traditional during the Wilson’s disease, but are often ignored. We must suspect the disease in children when faced with disorders of handwriting or school failures and in the adult, when faced with neurological symptoms in a patient having a hepatic disease. We must not hesitate to consider it even given purely psychiatric signs, and we had better know to seek the neurological ones. [ABSTRACT FROM AUTHOR]