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Don’t fight Hyperferritinemia cataract syndrome alone.
Find your community on the free RareGuru App.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.
Source: GARD Last updated on 05-01-20
No. People with hyperferritinemia cataract syndrome are not at an increased risk for other iron storage disorders.
Last updated on 05-01-20
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
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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