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 s...

Wilson disease is a pathology because of a gene mutation causing malfunction in the copper excretion from the organism. Therefore, copper accumulation in the human body gives rise to oxidative processes. Hence, Wilson disease causes several disorders including affecting tissues and organs. Neurological disorders leads to copper accumulation in the human body. Approximately 95% of individuals wi...

Wilson's disease (WD) is a rare autosomal recessive inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The presentation is usually neurologic or hepatic, seen in 40% of patients. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Here a case of Wilson disease with various neurological...

We report a 27-year-old woman who developed Coombs' negative hemolytic anemia and fulminant hepatic failure as the initial manifestation of Wilson's disease. Unmeasurably low level of serum alkaline phosphatase provided a clue to the diagnosis of Wilson's disease. The diagnosis was established with the presence of Kayser-Fleischer ring, decreased serum ceruloplasmin level, and elevated urine an...

BACKGROUND Wilson's disease (WD) is an autosomal recessive disorder leading to copper overload, mainly in the liver and brain, due to mutations in the ATP7B gene. About 10% of heterozygous carriers of ATP7B gene mutations have decreased serum ceruloplasmin, posing diagnostic difficulties. CASE REPORT We report a four-member family wherein the 11-year-old daughter was diagnosed as having WD ba...

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 a...