Web Resources

http://www.webmd.com/eye-health/cataracts/hyperferritinemia-cataract-syndrome

Inheritance

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Hyperferritinemia-Cataract Syndrome

Background and History

This metabolic disorder was first described in 1995 and only a small number of families have been reported.  The only significant symptom reported by most patients is that of glare in bright environments and blurred vision.

Clinical Correlations

This is a disorder of a protein important for the storage and blood transport of iron.  The abnormally high blood level of a protein molecule, called ferritin, often leads to crystalline deposits (cataracts) in the lenses.  This can cause light scattering which is responsible for the glare sometimes reported.  They may also interfere with transmission of light to the retina leading to reduced vision.  The cataracts may be present at birth but may also not appear until adulthood.

There are usually no systemic symptoms unless blood loss occurs in which case patients with this disorder are more likely to develop an anemia than individuals that do not carry the specific mutation.

Genetics

This is an autosomal dominant disorder which is passed directly from affected parents to 50% of their children (on average).

Diagnosis and Prognosis

The clinical appearance of cataracts in this disorder is not unique and the diagnosis is often not suspected.  A hematologist can make the diagnosis from studies of the blood.