HEREDITARY CATARACT
نویسندگان
چکیده
منابع مشابه
Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal...
متن کاملOn the Hyperferritinemia and Hereditary Cataract Syndrome
Introduction: Mutations in the promoter region of ferritin light gene can induce an uncontrolled over expression of this protein. Consequently, ferritin is found in serum at very high levels (~1000 ng/mL) and it accumulates in the crystalline lens, generating cataracts. This entity is known as hyperferritin and hereditary cataract syndrome (HHCS) which is inherited in an autosomal dominant mann...
متن کاملPrevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract.
We screened 3,249 blood donors and 12,916 patients with cataract to get insights into the frequency of hereditary hyperferritinemia cataract syndrome (HHCS) in subjects with unexplained hyperferritinemia and/or cataract. No mutation in the iron responsive element of the L-ferritin gene was found in subjects who met the established inclusion criteria. HHCS appears to be a relatively rare conditi...
متن کاملFerritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.
PURPOSE Hereditary hyperferritinemia cataract syndrome (HHCS) is a genetic disease defined by cataracts, hyperferritinemia, and ferritin light-chain (L-ferritin) gene mutations. HHCS was diagnosed in this study in one of the first families known to be affected in the United States, and the basis of lens opacities in HHCS was determined. METHODS DNA amplification and sequencing of the human L-...
متن کاملHereditary Posterior Polar Cataract, with Report of a Pedigree.
K HEREDITARY, developmental, posterior polar cataract has been encountered in a North Country family and its descendants over five generations. It shows two unique features: progression and anticipation. Although several types of hereditary cataract have already been fully reported in the literature, only one satisfactory pedigree relating to posterior polar cataract has previously been recorde...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1921
ISSN: 0007-1161
DOI: 10.1136/bjo.5.2.64