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Zolnikova I.V.

Helmholtz National Medical Research Center of Eye Diseases

Milash S.V.

Helmholtz National Medical Research Center of Eye Diseases

Zinchenko R.A.

Research Center for Medical Genetics;
N.A. Semashko National Research Institute of Public Health

Polyakov A.V.

Vladimirsky Moscow Regional Research Clinical Institute

Stepanova A.A.

Bekhterev National Medical Research Center for Psychiatry and Neurology

Cherniak A.B.

Pirogov Russian National Research Medical University

Sianosyan A.A.

Helmholtz National Medical Research Center of Eye Diseases

Egorova I.V.

Helmholtz National Medical Research Center of Eye Diseases

Kadyshev V.V.

N.P. Bochkov Research Centre for Medical Genetics

Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)

Authors:

Zolnikova I.V., Milash S.V., Zinchenko R.A., Polyakov A.V., Stepanova A.A., Cherniak A.B., Sianosyan A.A., Egorova I.V., Kadyshev V.V.

More about the authors

Journal: Russian Annals of Ophthalmology. 2022;138(5): 80‑86

DOI: 10.17116/oftalma202213805180

Views: 2422

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To cite this article:

Zolnikova IV, Milash SV, Zinchenko RA, et al. . Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation). Russian Annals of Ophthalmology. 2022;138(5):80‑86. (In Russ.)
https://doi.org/10.17116/oftalma202213805180

Подписка 2025 (Russian Annals of Ophthalmology)
 
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Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.

Keywords:

gyrate atrophy
molecular genetics
the OAT gene
electroretinography
optical coherence tomography
ophthalmic genetics
fundus autofluorescence
DNA analysis
mutations
biomarkers

Authors:

Zolnikova I.V.

Helmholtz National Medical Research Center of Eye Diseases

Milash S.V.

Helmholtz National Medical Research Center of Eye Diseases

Zinchenko R.A.

Research Center for Medical Genetics;
N.A. Semashko National Research Institute of Public Health

Polyakov A.V.

Vladimirsky Moscow Regional Research Clinical Institute

Stepanova A.A.

Bekhterev National Medical Research Center for Psychiatry and Neurology

Cherniak A.B.

Pirogov Russian National Research Medical University

Sianosyan A.A.

Helmholtz National Medical Research Center of Eye Diseases

Egorova I.V.

Helmholtz National Medical Research Center of Eye Diseases

Kadyshev V.V.

N.P. Bochkov Research Centre for Medical Genetics

Received:

27.05.2021

Accepted:

01.09.2021

List of references:

  1. Takki K, Simell O. Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Br J Ophthalmol. 1974;58(11):907-916.  https://doi.org/10.1136/bjo.58.11.907
  2. Jacobsohn E. Ein fall von Retinitis pigmentosa atypica. Klin. Monatsbl. Augenheilkd. 1888;26:202-206. 
  3. Cutler CW. Drei ungewönlische Fälle von retino-choroidal Degeneration. Arch Augenheilk. 1895;30:117-122. 
  4. Fuchs E. Ueber zwei der retinitis pigmentosa verwandte krankheiten (retinitis punctata albescens und atrophia gyrata choroideae et retinae). Arch Augenheilkd. 1896;32:111-116. 
  5. 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;1869(1):140555. https://doi.org/10.1016/j.bbapap.2020.140555
  6. Takki KK, Milton RC. The natural history of gyrate atrophy of the choroid and retina. Ophthalmology. 1981;88(4):292-301.  https://doi.org/10.1016/s0161-6420(81)35031-3
  7. Inana G, Hotta Y, Zintz C, Takki K, Weleber RG, Kennaway NG, Nakayasu K, Nakajima A, Shiono T. Expression defect of ornithine aminotransferase gene in gyrate atrophy. Invest Ophthalmol Vis Sci. 1988;29(7):1001-1005.
  8. Saito T, Hayasaka S, Yabata K, Omura K, Mizuno K, Tada K. Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. Tohoku J Exp Med. 1981;135(3):331-332.  https://doi.org/10.1620/tjem.135.331
  9. Sela BA, Zlotnik J, Masos T, Yablonski G, Abraham F. Gyrate atrophy of choroid and retina, and hyperornithinemia. Harefuah. 2000;138(2): 101-105, 175. 
  10. Kaiser-Kupfer MI, Kuwabara T, Askanas V, Brody L, Takki K, Dvoretzky I, Engel WK. Systemic manifestations of gyrate atrophy of the choroid and retina. Ophthalmology. 1981;88(4):302-306.  https://doi.org/10.1016/s0161-6420(81)35030-1
  11. Feldman RB, Mayo SS, Robertson DM, Jones JD, Rostvold JA. Epiretinal membranes and cystoid macular edema in gyrate atrophy of the choroid and retina. Retina. 1989;9(2):139-142.  https://doi.org/10.1097/00006982-198909020-00014
  12. Sharma YR, Singh DV, Azad RV, Pal N. Gyrate atrophy with bilateral full thickness macular hole. Eye (Lond). 2006;20(6):745-747.  https://doi.org/10.1038/sj.eye.6702009
  13. Inanc M, Tekin K, Teke MY. Bilateral choroidal neovascularization associated with gyrate atrophy managed with intravitreal bevacizumab. Int Ophthalmol. 2018;38(3):1351-1355. https://doi.org/10.1007/s10792-017-0579-2
  14. Tripathy K, Chawla R, Sharma YR, Gogia V. Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis. Oman J Ophthalmol. 2016;9(2):104-106.  https://doi.org/10.4103/0974-620x.184529
  15. Tekin K. A Rare Association of Foveoschisis with Gyrate Atrophy. Delhi J Ophthalmol. 2017;28:1.  https://doi.org/10.7869/djo.295
  16. Zhioua Braham I, Ammous I, Maalej R, Boukari M, Mili Boussen I, Errais K, Zhioua R. Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report. BMC Ophthalmol. 2018; 18(1):89.  https://doi.org/10.1186/s12886-018-0755-9
  17. Guan W, Wang G, Hu F, Peng X. Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl. BMC Ophthalmol. 2021;21(1):93.  https://doi.org/10.1186/s12886-021-01862-1
  18. Gohil R, Sivaprasad S, Han LT, Mathew R, Kiousis G, Yang Y. Myopic foveoschisis: a clinical review. Eye (Lond). 2015;29(5):593-601.  https://doi.org/10.1038/eye.2014.311
  19. García Caride S, López Guajardo L, Donate López J. Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy. Am J Ophthalmol Case Rep. 2021;21:101028. https://doi.org/10.1016/j.ajoc.2021.101028
  20. Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration. Arch Ophthalmol. 1991;109(11):1539-1548. https://doi.org/10.1001/archopht.1991.01080110075039

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