Hyperferritinemia cataract syndrome

Are people with hyperferritinemia cataract syndrome at an increased risk for other iron disorders?

No. People with hyperferritinemia cataract syndrome are not at an increased risk for other iron storage disorders.

Last updated on 05-01-20

Is it unusual for a person with hyperferritinemia cataract syndrome to have unaffected parents?

Yes. Most people with hyperferritinemia cataract syndrome inherit the condition from an affected parent. However, the syndrome can occur for the first time in a family in an affected child as a result of a new, spontaneous mutation in the FTL gene. It is not known how often this occurs, but our search found two published case reports. These reports do not reflect the actual number of people with new mutations, but the thorough testing preformed in these cases confirm that spontaneous mutations do occur.

Last updated on 05-01-20

How might hyperferritinemia cataract syndrome be treated?

Signs and symptoms of hyperferritinemia cataract syndrome includes early onset (childhood to early adulthood) cataract. Apart from cataracts, the syndrome causes no symptoms. The condition does not cause iron to be stored in body tissues. Lab tests show high levels of ferritin in the blood, however iron and transferrin saturation levels are normal. Once the syndrome is diagnosed, treatment involves regular eye exams and cataract surgery if needed. Currently there are no treatments to stop or slow the cataracts.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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