Gyrate Atrophy of the Choroid and Retina

PubMed ID: 32491691

Author(s): Elnahry AG, Tripathy K. Gyrate Atrophy of the Choroid and Retina. 2023 Aug 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK557759/ PMID 32491691

Journal:

Gyrate atrophy (GA) of the choroid and retina is a rare genetic disease of autosomal recessive inheritance. It primarily affects the ocular tissues and occurs due to deficiency of the enzyme ornithine aminotransferase (OAT) that leads to a 10 to 20 times increase in the plasma level of the amino acid ornithine, compared to the normal plasma levels, which is thought to result in the ocular manifestations associated with the condition. This occurs due to mutations in the OAT gene located on chromosome 10, which results in a decrease or absence of the activity of the enzyme OAT. The condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade and spread centrally to the macular area, myopia, changes in the macula including cystic changes that appear in the first and second decades, and posterior subcapsular cataracts. Patients usually present with night blindness followed by visual field constriction and eventually diminution of central vision and blindness. The condition is diagnosed by the presence of the characteristic clinical picture, the presence of hyperornithinemia in plasma, and the detection of mutations in the OAT gene. Treatment mainly involves dietary modifications and management of complications.