[Hereditary hyperferritinemia syndrome and cataract]

Hereditary hyperferritinemia cataract is a recently described autosomal dominant syndrome, characterized by bilateral cataracts and elevated level of serum ferritin.

Three members of a family were investigated for cataract and hyperferritinemia. A 30-year-old woman had elevated serum ferritin levels and bilateral cataracts. She was treated for hemochromatosis, but serum iron and transferrin saturation were normal. Her two sons, nine and five years old, also had a high ferritin level and bilateral cataracts.

The ferritin level was 1200 micrograms/L in the woman's serum, and respectively, 974 and 965 micrograms/L in the two boys' serum. The mother had a visual acuity of 8/10 in the right eye and 5/10 in the left eye. The cataract comprised fine crystalline cortical opacities, extending axially. The two sons had 7 to 8/10 in both eyes. No other ophthalmic abnormality was noted. These patients were heterozygous for a 16 bp deletion on the L-ferritin gene.

Ferritin is an iron storage ubiquitous protein present in every cell. In hyperferritinemia cataract syndrome, serum iron and transferrin saturation are normal, and the elevated serum ferritin level is the consequence of an autosomal dominant disorder. The cataract is made up of the accumulation of small opacities disposed radially and more numerous on the outside edges, with relatively good visual acuity. The size of the cataract seems to be correlated to the serum ferritin level. In hemochromatosis, hyperferritinemia is related to increased iron stores and is not associated with cataracts.