Gyrus atrophy of the choroid and retina. A case presentation

Authors

  • Leopoldo Garduno Vieyra Oftalmologia Garduño
  • Raul Rua Martinez Oftalmologia Garduño
  • Natalia Rodriguez Mena Oftalmologia Garduño
  • Gladys Villalobos Alonso Oftalmologia Garduño

DOI:

https://doi.org/10.31288/oftalmolzh202326364

Keywords:

atrophy, gyrus, choroid, retina

Abstract

Gyrus atrophy is a rare autosomal recessive hereditary disease secondary to a mutation of the OAT gene on chromosome 10 which results in a deficiency of the mitochondrial enzyme ornithine aminotransferase that causes a 20-fold increase in serum concentrations of the amino acid ornithine. The disease is characterized by atrophic choroid and retinal patches that begin in the peripheral retina in the first decade and later spread centrally to the macular area, causing cystic changes and posterior subcapsular cataracts.

The clinical picture is characterized by night blindness, constriction of the visual field and finally decreased central vision and blindness. In this article, we present the case of a 53-year-old woman with no significant hereditary antecedents who presented a decrease in visual acuity after several months of evolution.

References

Tsang SH, Aycinena ARP, Sharma T. Inborn Errors of Metabolism: Gyrate Atrophy. Adv Exp Med Biol. 2018;1085:183-185. https://doi.org/10.1007/978-3-319-95046-4_37

Elnahry AG, Tripathy K. Gyrate Atrophy Of The Choroid and Retina. 2021 Apr 20. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021.

Sahin A, Türkcu FM, Sahin M, Yildirun A. Cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide. Romanian J Ophthalmol, 2018;62(3):246-9. https://doi.org/10.22336/rjo.2018.37

Shrestha SP, Arora R, Pradhan R, Bhatt S. First reported cases of gyrate atrophy od the choroid from Nepal. BMJ Case Reports. 2010;10:1136. https://doi.org/10.1136/bcr.04.2010.2951

Raitta C, Carlson S, Vannas-Sulonen K. Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium. British Journal of Ophthalmology. 1990;74:363-7. https://doi.org/10.1136/bjo.74.6.363

Moloney TP, O'Hagan S, Lee L. Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia. Clinical Ophthalmology. 2014;8:1561-3. https://doi.org/10.2147/OPTH.S64248

Elpeleg ON, Korman SH. Sustained oral lysine supplementation in ornithine d-aminotransferase deficiency. J Inherit Metab Dis 2001; 24: 423 -424 https://doi.org/10.1023/A:1010545811361

Valle D, Walser M, Brusilow S, Kaiser-Kupfer MI, Takki K. Gyrate atrophy of the choroid and retina: biochemical considerations and experience with an arginine restricted diet Ophthalmology 1981; 88: 325-330 https://doi.org/10.1016/S0161-6420(81)35028-3

Published

2023-04-25

How to Cite

1.
Garduno Vieyra L, Rua Martinez R, Rodriguez Mena N, Villalobos Alonso G. Gyrus atrophy of the choroid and retina. A case presentation . J.ophthalmol. (Ukraine) [Internet]. 2023 Apr. 25 [cited 2024 Mar. 28];(2):63-4. Available from: https://ua.ozhurnal.com/index.php/files/article/view/28

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