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.
Wheaton Eye Clinic Ltd
Kelly Laurenti is an Ophthalmologist and a Pediatrics provider in Wheaton, Illinois. Dr. Laurenti is rated as an Advanced provider by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. His top areas of expertise are Oculomotor Apraxia Cogan Type, Strabismus, Amblyopia, and Esotropia.
Pediatric Eye Specialists, TX - ECW
Born and raised in Paris, Texas, Michael Hunt graduated Summa Cum Laude from Baylor University in 1995. He received his medical doctorate with high honor after four years of training at Baylor College of Medicine, where he also participated in medical missions and earned distinction as an Alpha Omega Alpha medical honor society member.Dr. Hunt completed his ophthalmology residency and fellowship in pediatric ophthalmology/adult strabismus at the world-renowned University of Iowa Hospitals and Clinics. In 2004, he moved to the Fort Worth area.Honored as a “Top Doc” by Fort Worth, Texas magazine, Dr. Hunt has made several medical mission trips to Vietnam, caring for underprivileged patients. He is a longtime volunteer for the Alexander Eye Clinic at Cook Children’s Medical Center. Dr. Hunt has also served as primary investigator on several clinical trials and has published multiple peer-reviewed articles.Dr. Hunt cares for pediatric eye disorders and adults with misaligned eyes (strabismus). He has specialized training in the diagnosis and treatment of childhood strabismus, amblyopia, cataracts, trauma, retinopathy of prematurity, glaucoma and ptosis. Dr. Hunt is rated as an Advanced provider by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. His top areas of expertise are Strabismus, Amblyopia, Esotropia, and Epicanthal Folds.
Pediatric Eye Specialists, TX - ECW
Born and raised in Austin, Texas, Eric Packwood graduated from Rice University and Baylor College of Medicine, where he was active with campus leadership and medical mission work.Dr. Packwood pursued his ophthalmology residency at St. Louis University, where he served as chief resident and was selected as the Outstanding Resident in 1999, and completed his pediatric ophthalmology/adult strabismus fellowship at Washington University. He moved to Fort Worth in 2000.Recognized as a “Super Doctor” in Texas Monthly, a “Best Doctor for Your Child” in D Magazine and a “Top Doc” in Fort Worth, Texas magazine, Dr. Packwood is a longtime volunteer for the Alexander Eye Clinic at Cook Children’s Medical Center. He also performs medical mission work for underprivileged children, has published several peer-reviewed articles and has served as an investigator on multiple clinical trials.Dr. Packwood treats all pediatric eye disorders and adults with misaligned eyes (strabismus). He is highly experienced in the treatment of childhood strabismus, amblyopia, trauma, cataracts, glaucoma, retinopathy of prematurity, and ptosis. Dr. Packwood is rated as an Advanced provider by MediFind in the treatment of Hyperferritinemia-Cataract Syndrome. His top areas of expertise are Strabismus, Esotropia, Blocked Tear Duct, and Ocular Albinism.
Published Date: August 01, 2012
Published By: National Institutes of Health