Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.
Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues.
Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Martina Muckenthaler is in Netherlands. Muckenthaler is rated as a Distinguished expert by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Hemochromatosis, Hyperferritinemia-Cataract Syndrome, Childhood Iron Deficiency Anemia, and Anemia.
Mayka Sanchez is in Sant Cugat Del Valles, Spain. Sanchez is rated as a Distinguished expert by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Hyperferritinemia-Cataract Syndrome, Hemochromatosis, Congenital Cataract, and Erythropoietic Protoporphyria.
Jamie Craig is in Adelaide, Australia. Craig is rated as a Distinguished expert by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are Glaucoma, Pigment-Dispersion Syndrome, Axenfeld-Rieger Syndrome, and Hyperferritinemia-Cataract Syndrome.
Published Date: August 01, 2012Published By: National Institutes of Health
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