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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hyperferritinemia cataract syndrome


Other Names for this Disease
  • Hereditary hyperferritinemia cataract syndrome
  • Cataract-hyperferritinemia syndrome
  • Bonneau-Beaumont syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hyperferritinemia cataract syndrome is a rare condition that is characterized by elevated levels of ferritin (an iron-storing protein) in the blood and early onset cataracts. Without treatment, these cataracts often become progressively worse leading to dimming and blurriness of vision. The severity of the condition can vary significantly from person to person, even among members of the same family. Hyperferritinemia cataract syndrome is caused by changes (mutations) in the FTL gene and is inherited in an autosomal dominant manner. Treatment is generally focused on improving vision and may include glasses, contact lenses and/or cataract surgery.[1][2]
Last updated: 8/27/2015

References

  1. Hyperferritinemia-cataract syndrome. Genetics Home Reference. August 2012; http://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome.
  2. Hyperferritinemia Cataract Syndrome. National Organization for Rare Disorders. 2012; http://rarediseases.org/rare-diseases/hyperferritinemia-cataract-syndrome/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hyperferritinemia cataract syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperferritinemia cataract syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hereditary hyperferritinemia cataract syndrome
  • Cataract-hyperferritinemia syndrome
  • Bonneau-Beaumont syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.