Gyrate Atrophy - EyeWiki
WEBGyrate Atrophy of the choroida and the retina is a rare autosomal recessive retinal dystrophy characterized by progressive chorioretinal degeneration, early cataract formation and myopia.
Gyrate Atrophy of the Choroid and Retina - StatPearls - NCBI Bookshelf
WEBAug 25, 2023 · Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase.
Gyrate Atrophy | Hereditary Ocular Diseases - University of Arizona
WEBGyrate atrophy is characterized by night blindness, myopia, and multiple round islands of peripheral chorioretinal degeneration which often appear in the first decade of life, sometimes as early as five years of age.
Gyrate atrophy of the choroid and retina - MedlinePlus
WEBGyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. Explore symptoms, inheritance, genetics of this condition.
Gyrate atrophy of the choroid and retina - Genes and Disease
WEBPeople suffering from gyrate atrophy of the choroid (the thin coating of the eye) and retina face a progressive loss of vision, with total blindness usually occurring between the ages of 40 and 60. The disease is an inborn error of metabolism.
Vision on gyrate atrophy: why treat the eye? - PMC
WEBDec 14, 2023 · GACR is a rare autosomal recessive disorder of ornithine metabolism. Clinically, GACR is characterized by progressive chorioretinal atrophy. Patients present in early childhood with complaints of myopia and nyctalopia. Eventually, the disease leads to severe visual impairment and functional blindness by the fourth–fifth decade of life.
Gyrate atrophy of the choroid and retina: Update on diagnosis …
WEBApr 23, 2024 · Gyrate atrophy of the choroid and retina (GACR) is a rare disease of autosomal recessive inheritance that causes alterations in aminoacid metabolism. Clinically, it is characterized by progressive vision loss starting in the first decades of life.
Vision on gyrate atrophy: why treat the eye? - EMBO Molecular …
WEBDec 14, 2023 · GACR is a rare autosomal recessive disorder of ornithine metabolism. Clinically, GACR is characterized by progressive chorioretinal atrophy. Patients present in early childhood with complaints of myopia and nyctalopia. Eventually, the disease leads to severe visual impairment and functional blindness by the fourth–fifth decade of life.
Vision on gyrate atrophy: why treat the liver?
WEBDec 14, 2023 · Gyrate Atrophy of the Choroid and Retina (GACR) currently lacks any effective treatment and a highly restricted, yet cumbersome, low-arginine diet is the only available therapeutic option. In our work, we found that replacement of ornithine-aminotransferase (OAT) activity in the liver lowers ornithine concentrations in the blood …
Retina Gyrate Atrophy - an overview | ScienceDirect Topics
WEBGyrate atrophy of the choroid and retina (OMIM # 258870) is an extremely rare, autosomal recessive, chorioretinal dystrophy due to mutations in the OAT (ornithine aminotransferase) gene (OMIM *613349), located on chromosome 10q26, which is involved in cellular detoxification by removing ornithine derived from dietary arginine, thereby eliminatin...