Gyrate Atrophy of the Choroid and Retina Overview
Learn About Gyrate Atrophy of the Choroid and Retina
Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.
Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where it helps break down a molecule called ornithine. Ornithine is involved in the urea cycle, which processes excess nitrogen (in the form of ammonia) that is generated when protein is broken down by the body. In addition to its role in the urea cycle, ornithine participates in several reactions that help ensure the proper balance of protein building blocks (amino acids) in the body. This balance is important because a specific sequence of amino acids is required to build each of the many different proteins needed for the body's functions. The ornithine aminotransferase enzyme helps convert ornithine into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into the amino acids glutamate and proline.
More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Iolanda Boffa practices in Naples, Italy. Ms. Boffa and is rated as an Elite expert by MediFind in the treatment of Gyrate Atrophy of the Choroid and Retina. Her top areas of expertise are Gyrate Atrophy of the Choroid and Retina, Embryonal Tumor with Multilayered Rosettes, Carbamoyl Phosphate Synthetase 1 Deficiency, and Adult T-Cell Leukemia.
Riekelt Houtkooper practices in Amsterdam, Netherlands. Houtkooper and is rated as an Elite expert by MediFind in the treatment of Gyrate Atrophy of the Choroid and Retina. Their top areas of expertise are Gyrate Atrophy of the Choroid and Retina, Barth Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Aase Syndrome.
Elena Marrocco practices in Pozzuoli, Italy. Ms. Marrocco and is rated as an Elite expert by MediFind in the treatment of Gyrate Atrophy of the Choroid and Retina. Her top areas of expertise are Gyrate Atrophy of the Choroid and Retina, Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, and Late-Onset Retinal Degeneration.
Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
Published Date: August 01, 2009
Published By: National Institutes of Health