Duet procedure to achieve reversible trifocality in a young patient with hereditary hyperferritinemia-cataract syndrome
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2021.101026
Abstract: An 18-year-old patient presented with bilateral hereditary hyperferritinemia-cataract syndrome (HHCS) with a decrease in visual acuity and glare symptoms (Fig. 1).1 Given the loss of accommodation in cataract surgery, we informed the patient about multifocal… read more here.
Keywords: duet procedure; cataract syndrome; hereditary hyperferritinemia; hyperferritinemia cataract ... See more keywords
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family
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DOI: 10.1177/1093526618755200
Abstract: We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL)… read more here.
Keywords: italian family; hereditary hyperferritinemia; hyperferritinemia cataract; family ... See more keywords
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
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DOI: 10.3390/ijms22115451
Abstract: Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element… read more here.
Keywords: hyperferritinemia; cataract syndrome; hereditary hyperferritinemia; hyperferritinemia cataract ... See more keywords
Hereditary Hyperferritinemia
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032560
Abstract: Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The major and common role of ferritin is to bind Fe2+, oxidize it and sequester it in a safe form… read more here.
Keywords: ferritin; hyperferritinemia; iron; hereditary hyperferritinemia ... See more keywords