Hyperferritinemia-Cataract SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Hyperferritinemia-Cataract Syndrome
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.
Cleveland Clinic Main Campus
Fatema Ghasia is an Ophthalmologist practicing medicine in Cleveland, Ohio. Dr. Ghasia is rated as an Advanced provider by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Amblyopia, Strabismus, Brown Syndrome, Esotropia, and Deep Brain Stimulation. Dr. Ghasia is board certified in American Board Of Ophthalmology, 2013. Dr. Ghasia is currently accepting new patients.
Sight MD PA
Maria Barbe is an Ophthalmologist practicing medicine in Pottsville, Pennsylvania. Dr. Barbe is rated as an Experienced provider by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Strabismus, Esotropia, Amblyopia, and Epicanthal Folds. Dr. Barbe is board certified in American Board Of Ophthalmology. Dr. Barbe is currently accepting new patients.
Duke Eye Center
Sharon Freedman is an Ophthalmologist and a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Freedman is rated as an Experienced provider by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Retinopathy of Prematurity, Strabismus, Brown Syndrome, Trabeculectomy, and Cataract Removal. Dr. Freedman is board certified in American Board Of Ophthalmology, Ophthalmology. Dr. Freedman is currently accepting new patients.
Published Date: August 01, 2012
Published By: National Institutes of Health