Ophthalmological manifestations of gyrate retinal atrophy. Case report
Keywords:
case reports, choroid, fundus oculi, gyrate atrophy, ornithine-oxo-acid transaminase, retinaAbstract
Introduction: gyrate atrophy is a rare metabolic disorder due to a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive manner, which causes characteristic chorioretinal findings.
Objective: to present the case of a patient affected by gyrate atrophy, with emphasis on the diagnosis, the ophthalmological manifestations of the disease, and its treatment.
Case presentation: a 13-year-old female patient, of mixed race, residing in Ambato, Tungurahua province (Ecuador). She has a personal medical history of gyrate atrophy. She attended the consultation due to progressive decrease in visual acuity. On fundoscopic examination, hereditary choroidal atrophy, of a nonspecific nature was detected, extending from the posterior pole towards the periphery, in the form of circular rings (characteristic of the disease). She was prescribed a protein-restricted diet, with an emphasis on limiting arginine intake. The multidisciplinary follow-up protocol included quarterly monitoring of plasma amino acid levels to adjust dietary restrictions, as well as semiannual examinations for the early detection of secondary complications.
Conclusions: the diagnosis of gyrate retinal atrophy in this patient was based on the symptoms and the fundus examination. Genetic testing and the detection of elevated levels of systemic ornithine confirmed the diagnosis. Treatment based on reducing arginine intake reduces the risk of disease worsening. Updated information on its diagnosis, ophthalmological manifestations, and treatment helps fill a gap in practical knowledge.
Downloads
References
1. Albé E, Tassignon MJ. Enfermedades oculares de importancia en cirugía refractiva. Cirugía Refractiva. 2da ed. Ámsterdam: Elsevier; 2020. p. 132-145.
2. Salmon JF. Distrofias hereditarias del fondo de ojo. En: Kanski: Oftalmología clínica. Un enfoque sistemático. 9ª ed. Barcelona, España: Elsevier España, S.L.U.; 2021. p. 488-532.
3. Çavdarlı C, Şahlı E, Çavdarlı B, Numan M. "Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation." Arq Brasil Oftalmol [Internet]. 2020 [citado 4 Oct 2025];83(2):149-152. Disponible en: https://pmc.ncbi.nlm.nih.gov/articles/PMC11826744/pdf/abo-83-02-0149.pdf
4. Jalali H, Najafi M, Khoshaeen A, Mohammad-Reza M, Mahdavi M. "First report of c. 425-1G> A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia." Eur J Ophthalmol [Internet]. 2021 [citado 4 Oct 2025];31(5):NP23-NP26. Disponible en: https://pubmed.ncbi.nlm.nih.gov/32418451/
5. Mejía-Alvarán M. y Ortiz-Zapata AI. Interpretación campimétrica. En: Neuropatías ópticas de la A a la Z. Barcelona, España: Elsevier; 2024:121.
6. 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 [Internet]. 2021 [citado 4 Oct 2025];1869(1):140555. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S1570963920302028
7. Elnahry AG, Tripathy K. Gyrate Atrophy of the Choroid and Retina. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan [citado 4 Oct 2025]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK557759/
8. Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM. Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay. Mol Genet Metab [Internet]. Sep-Oct 2024 [citado 4 Oct 2025];143(1-2):108542. Disponible en: https://www.sciencedirect.com/science/article/pii/S1096719224004268
9. Elnahry AG, Elnahry GA. Rotated atrophy of the choroid and retina: a review. Eur J Ophthalmol [Internet]. 2022 [citado 4 Oct 2025];32(3):1314-1323. Disponible en: https://journals.sagepub.com/doi/10.1177/11206721211067333?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
10. Labiano AT, Arroyo MH. Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine. GMS Ophthalmol Cases [Internet]. Feb 27 2020 [citado 4 Oct 2025];10:1-5. Disponibe en: https://pmc.ncbi.nlm.nih.gov/articles/PMC7113615/pdf/OC-10-04.pdf
11. Kaczmarczyk A, Baker M, Diddle J, Yuzyuk T, Valle D, Lindstrom K. A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy. Mol Genet Metab Rep [Internet]. Mar 2022 [citado 4 Oct 2025];16(31):100857. Disponible en: https://pmc.ncbi.nlm.nih.gov/articles/PMC9248225/pdf/main.pdf
12. Pauleikhoff L, Weisschuh N, Lentzsch A, Spital G, Krohne TU, Agostini H, et al. Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype. Eur J Ophthalmol [Internet]. Jan 2024 [citado 4 Oct 2025];34(1):79-88. Disponible en: https://journals.sagepub.com/doi/10.1177/11206721231178147?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
13. Palmer E, Stepien KM, Campbell C, Barton S, Iosifidis C, Ghosh A, et al. Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy. Orphanet J Rare Dis [Internet]. Sep 4 2023 [citado 4 Oct 2025];18(1):265. Disponible en: https://pmc.ncbi.nlm.nih.gov/articles/PMC10476330/pdf/13023_2023_Article_2840.pdf
14. Huang J, Fu J, Fu S, Yang L, Nie K, Duan C, et al. Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant. Br J Ophthalmol [Internet]. Mar 2019 [citado 4 Oct 2025];103(3):428-435. Disponible en: https://bjo.bmj.com/content/103/3/428.long
15. da Palma MM, Ku C, Igelman AD, Burr A, Shevchenko-Sutherland L. A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease. Ophthalmic Genet [Internet]. Apr 2023 [citado 4 Oct 2025];44(2):191-7. https://www.tandfonline.com/doi/10.1080/13816810.2022.2098986?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
16. Merino-Diez MT, Soria-Prada C, Zamorano-Aleixandre M, Gonzalez-Lopez JJ. "Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment. Arch Soc Esp Oftalmol (Engl Ed) [Internet]. 2024 [citado 4 Oct 2025];99(9):392-99. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S2173579424000719
17. Ozcaliskan S, Balci S, Artunay O. A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy. J Coll Physicians Surg Pak [Internet]. Nov 2021 [citado 4 Oct 2025];31(11):1354-1356. Disponible en: https://www.jcpsp.pk/oas/mpdf/generate_pdf.php?string=dTJmR2pzTEpuSVQ2Tjh6T3N2cktzZz09
18. Berhuni M, Tıskaoğlu NS. Foveoschisis associated with gyrate atrophy in ornithine aminotransferase deficiency: A case report. Photodiagnosis Photodyn Ther [Internet]. Jun 2023 [citado 4 Oct 2025];42:103618. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S1572100023003459?via%3Dihub
19. Castaño-Silos JC, Sanchez-Guillen I, Almorín-Fernández-Vigo I, Jerez-Fidalgo M, Fernández-Vigo JI. Atrofia coriorretiniana pigmentada paravenosa de presentación unifocal y unilateral. Arc Soc Esp Oftalmol [Internet]. Abr 2023 [citado 4 Oct 2025];98(4):233-7. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0365669123000011
20. Ju Y, Zong Y, Li X, Gao F, Chang Q, Huang X. Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT. Genes (Basel) [Internet]. Ago 2024 [citado 4 Oct 2025];15(8):1020. Disponible en: https://www.mdpi.com/2073-4425/15/8/1020
21. Pires-Franco de Oliveira BA, Vieira-Bussad M, Peyneau-Poncio L, Delpupo-Moro N. Atrofia girata da coroide e retina: atualização sobre diagnóstico e tratamento. Archives of Health, Curitiba [Internet]. 2025 [citado 4 Oct 2025];6(4):1-6. Disponible en: https://ojs.latinamericanpublicacoes.com.br/ojs/index.php/ah/article/view/3413/3117
22. Balfoort BM, Buijs MJN, Ten-Asbroek AL, Bergen AA, Boon CJ, Ferreira EA, et al. A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR). Mol Genet Metab [Internet]. Sep-Oct 2021 [citado 4 Oct 2025];134(1-2):96-116. Disponible en: https://www.sciencedirect.com/science/article/pii/S1096719221007629?via%3Dihub
23. Pampalone G, Chiasserini D, Pierigè F, Camaioni E, Orvietani PL, Bregalda A, et al. Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina. Int J Mol Sci [Internet]. Jul 2024 [citado 4 Oct 2025];25:7931. Disponible en: https://pdfs.semanticscholar.org/d8cf/757a8c869b577e8e411f0e0ffea9a47f2822.pdf
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Carlos Alberto Pérez Padilla, Zaihrys del Carmen Herrera Lazo, Mata Chango Christian Xavier
This work is licensed under a Creative Commons Attribution 4.0 International License.
Those authors who have publications with this journal accept the following terms of the License CC Attribution-NonCommercial 4.0 International (CC BY-NC 4.0):
You are free to:
- Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
The licensor cannot revoke these freedoms as long as you follow the license terms.
Under the following terms:
- Attribution — You must give appropriate credit , provide a link to the license, and indicate if changes were made . You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
The journal is not responsible for the opinions and concepts expressed in the works, which are the exclusive responsibility of the authors. The Editor, with the assistance of the Editorial Committee, reserves the right to suggest or request advisable or necessary modifications. Original scientific works are accepted for publication, as are the results of research of interest that have not been published or sent to another journal for the same purpose.
The mention of trademarks of specific equipment, instruments or materials is for identification purposes, and there is no promotional commitment in relation to them, neither by the authors nor by the editor.
