Gyrate atrophy of the choroid and retina (often simply called gyrate atrophy) is an inherited disorder that is characterized by vision loss that worsens over time (progressive vision loss). People with this disorder experience a gradual deterioration of cells (atrophy) in specific regions of the eyes. The specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby tissue layer called the choroid are particularly affected. Gyrate atrophy typically occurs in both eyes.

During childhood, most people with gyrate atrophy begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and a loss of vision at the edges of the visual field (peripheral vision). Over time, the field of vision continues to narrow, resulting in tunnel vision. Eventually, vision in the center of the visual field is impaired. Many people with gyrate atrophy also develop clouding of the lenses of the eyes (cataracts). These progressive vision changes can lead to blindness in adulthood. Medical management can slow the rate of vision loss in some people with gyrate atrophy.

Although gyrate atrophy primarily affects the eyes, some people have additional features. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia),  which may lead to poor feeding, vomiting, seizures, or coma. Hyperammonemia in infants with gyrate atrophy generally responds quickly to treatment and does not recur.

Gyrate atrophy usually does not affect intellectual abilities, but some people with this condition may have certain changes in the brain that can be seen with medical imaging (such as magnetic resonance imaging). Some people with gyrate atrophy may experience seizures. Additional signs and symptoms of gyrate atrophy can include muscle weakness and numbness, tingling, or pain in the hands or feet (peripheral neuropathy). 

More than 150 individuals with gyrate atrophy have been reported in the scientific literature. The condition appears to be most prevalent in Finland, where as many as 1 in 50,000 people may be affected.

Genetic changes that cause a disease are called pathogenic variants. Pathogenic variants in the OAT gene can cause gyrate atrophy. The OAT gene provides instructions for making an enzyme called ornithine aminotransferase (OAT). This enzyme helps break down a molecule called ornithine. Ornithine is involved in the urea cycle, which gets rid of the excess nitrogen (in the form of ammonia) that is made when proteins are broken down to provide energy. 

In addition to its role in the urea cycle, ornithine helps 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. OAT allows ornithine to be converted into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into two amino acids: proline and glutamate. Glutamate serves as an important chemical messenger (neurotransmitter).

The pathogenic variants that are associated with gyrate atrophy reduce the amount of functional OAT protein, which impairs the conversion of ornithine into P5C. As a result, excess ornithine can build up in the blood, in the fluid that surrounds the brain and spinal cord (cerebrospinal fluid), and in the clear fluid in the front of the eye (aqueous humor).

Although it is not clear exactly how these changes result in the specific signs and symptoms of gyrate atrophy, researchers have suggested that a buildup of ornithine may be toxic for cells in the retina. It has also been proposed that excess ornithine may reduce the production of a molecule called creatine. Creatine is needed for many tissues in the body to properly store and use energy. It helps provide energy for muscle contraction and is also important for nervous system functioning, a feature that may explain the peripheral neuropathy and muscle weakness seen in some people with gyrate atrophy.

Genetic Testing Information

• Genetic Testing Registry: Hyperornithinemia

Genetic and Rare Diseases Information Center

• Gyrate atrophy of choroid and retina

Patient Support and Advocacy Resources

• National Organization for Rare Disorders (NORD)

Clinical Trials

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• GYRATE ATROPHY OF CHOROID AND RETINA; GACR

Scientific Articles on PubMed

• PubMed

• Aktasoglu EO, Ozdemir HB, Ozmen MC, Inci A, Okur I, Ezgu FS, Tumer L. Gyrate atrophy of the choroid and retina: a tertiary center experience. Orphanet J Rare Dis. 2026 Feb 16;21(1):104. doi: 10.1186/s13023-026-04265-x. Citation on PubMed
• Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, Cellini B, Schultink P, Singh M, Schulze A, Timmer C, Valle D, Wanders R, Wartiovaara K, van Karnebeek C; GACR Bird's Eye View Consortium. A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions. Mol Genet Metab. 2024 Dec;143(4):108609. doi: 10.1016/j.ymgme.2024.108609. Epub 2024 Nov 7. No abstract available. Citation on PubMed
• Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation. J Inherit Metab Dis. 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. Citation on PubMed
• Elnahry AG, Elnahry GA. Gyrate Atrophy of the Choroid and Retina: A Review. Eur J Ophthalmol. 2022 May;32(3):1314-1323. doi: 10.1177/11206721211067333. Epub 2021 Dec 13. Citation on PubMed
• Fleury M, Barbier R, Ziegler F, Mohr M, Caron O, Dollfus H, Tranchant C, Warter JM. Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia. J Neurol Neurosurg Psychiatry. 2007 Jun;78(6):656-7. doi: 10.1136/jnnp.2006.101386. Epub 2006 Nov 6. No abstract available. Citation on PubMed or Free article on PubMed Central
• Heinanen K, Nanto-Salonen K, Komu M, Erkintalo M, Heinonen OJ, Pulkki K, Valtonen M, Nikoskelainen E, Alanen A, Simell O. Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia--clues to pathogenesis. Eur J Clin Invest. 1999 May;29(5):426-31. doi: 10.1046/j.1365-2362.1999.00467.x. Citation on PubMed
• Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF. Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy. Arch Ophthalmol. 2004 Jul;122(7):982-4. doi: 10.1001/archopht.122.7.982. Citation on PubMed
• Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. Arch Ophthalmol. 2002 Feb;120(2):146-53. doi: 10.1001/archopht.120.2.146. Citation on PubMed
• Mashima YG, Weleber RG, Kennaway NG, Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 1999 Dec;20(4):219-24. doi: 10.1076/opge.20.4.219.2271. Citation on PubMed
• Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Der Kaloustian V, Kaiser-Kupfer M, Valle D. An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest. 1988 Feb;81(2):630-3. doi: 10.1172/JCI113365. Citation on PubMed or Free article on PubMed Central
• Montioli R, Bellezza I, Desbats MA, Borri Voltattorni C, Salviati L, Cellini B. Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects. Biochim Biophys Acta Proteins Proteom. 2021 Jan;1869(1):140555. doi: 10.1016/j.bbapap.2020.140555. Epub 2020 Oct 14. Citation on PubMed
• Peltola KE, Jaaskelainen S, Heinonen OJ, Falck B, Nanto-Salonen K, Heinanen K, Simell O. Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology. 2002 Sep 10;59(5):735-40. doi: 10.1212/wnl.59.5.735. Citation on PubMed
• Peltola KE, Nanto-Salonen K, Heinonen OJ, Jaaskelainen S, Heinanen K, Simell O, Nikoskelainen E. Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology. 2001 Apr;108(4):721-9. doi: 10.1016/s0161-6420(00)00587-x. Citation on PubMed
• Santinelli R, Costagliola C, Tolone C, D'Aloia A, D'Avanzo A, Prisco F, Perrone L, del Giudice EM. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. J Inherit Metab Dis. 2004;27(2):187-96. doi: 10.1023/B:BOLI.0000028779.29966.05. Citation on PubMed
• Valtonen M, Nanto-Salonen K, Jaaskelainen S, Heinanen K, Alanen A, Heinonen OJ, Lundbom N, Erkintalo M, Simell O. Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia. J Inherit Metab Dis. 1999 Dec;22(8):855-66. doi: 10.1023/a:1005602405349. Citation on PubMed
• Wang T, Steel G, Milam AH, Valle D. Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1224-9. doi: 10.1073/pnas.97.3.1224. Citation on PubMed