Bull's eye maculopathy associated with hereditary hemochromatosis
نویسندگان
چکیده
منابع مشابه
Hereditary hemochromatosis.
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestati...
متن کاملHereditary hemochromatosis
of terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted noncommercial use, distribution, and reproduction in any medium provided article is properly cited. a Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles/CA USA. b Department of Pathology and Laboratory Medicine Weill Cornell Medical Co...
متن کاملCLINICAL REVIEW Hereditary Hemochromatosis
Background: The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease. Methods: A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism. Results: Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulat...
متن کاملHereditary hemochromatosis: laboratory evaluation.
The condition of hereditary hemochromatosis (HH) is caused by gene-dependent protein abnormalities involved in iron absorption, storage, or modulation of iron; these abnormalities result in iron overload. The clinical laboratory plays a significant role in case finding, diagnostic validation, and monitoring HH therapy. Elevated serum iron, transferrin saturation, and ferritin suggest HH, but re...
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ژورنال
عنوان ژورنال: American Journal of Ophthalmology Case Reports
سال: 2020
ISSN: 2451-9936
DOI: 10.1016/j.ajoc.2020.100674