hyperferritinemia

Hyperferritinemia-Cataract Syndrome

Clinical Characteristics
Ocular Features: 

Lens opacification is the only ocular sign of this disorder.  These may be congenital and nuclear in location but this is variable.  Pulverulent and ‘sunflower’ light-diffracting opacities have also been described and are likely responsible for the glare that many patients experience.  In some patients cataracts may not be diagnosed until adult life.  Ferritin levels in surgically removed lenses are 1,500 times higher than controls and histochemical studies demonstrate that the crystalline lens opacities consist of intracellular L-ferritin.

Systemic Features: 

Serum levels of iron and transferrin saturation are normal but ferritin levels are high.  Most patients are asymptomatic but blood loss may lead to iron deficiency anemia.

Genetics

This is an autosomal dominant disorder resulting from mutations in the FTL gene located at 19q33.33.  Phenotypic variability is common as expressed by serum ferritin levels and the characteristics of the lens opacities.

A patient with homozygosity of the FTL mutation has been reported but the phenotype resembled that of heterozygous patients.

Cataracts may also be present among other disorders of iron metabolism.  For example, mutations in the gene HFE (6p21.3) that is responsible for a form of hemachromotosis (235200), can also be associated with lens opacities consisting of both general nuclear sclerosis and discrete opacities.  Epilepsy may be part of the phenotype as well. 

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No systemic treatment is necessary in most patients but cataracts can be removed if visually significant.

References
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