Experience in managing patients with X-linked congenital retinoschisis
- 作者: Karyakin M.A.1, Stepanova E.A.1,2, Korotkikh S.A.2, Baksheev I.Y.1, Bolshedvorova A.I.1, Surtaev S.I.1, Shustova A.D.1
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隶属关系:
- Multiprofile Clinical Medical Center “Bonum”
- Ural State Medical University
- 期: 卷 19, 编号 1 (2024)
- 页面: 33-43
- 栏目: Case reports
- ##submission.datePublished##: 05.04.2024
- URL: https://ruspoj.com/1993-1859/article/view/568547
- DOI: https://doi.org/10.17816/rpoj568547
- ID: 568547
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AIM: To describe the clinical manifestations and management experience of patients with X-linked congenital retinoschisis (XLRS).
MATERIAL AND METHODS: The study was conducted in the ophthalmology department of the multidisciplinary clinical medical center Bonum (Yekaterinburg). Two brothers with XLRS were under observation. They underwent complete ophthalmological examinations, including electrophysiological examinations, optical coherence tomography (OCT), and fundus photoregistration. The mother refused genetic testing.
RESULTS: Both siblings had early (up to 1 year) manifestations of central foveolamellar and peripheral bullous retinoschisis. The parents are phenotypically healthy, and the relatives have no hereditary eye diseases. The younger brother had a progressive peripheral retinoschisis and underwent barrier laser retinopexy; as a result, the progression stopped at the last examination. Acetazolamide 125 mg given orally daily for 4 weeks did not have a noticeable effect on the volume of bullous cavities. The older brother had been under observation for >4 years, and spontaneous closure of retinal cavities on the periphery in one eye and retinal detachment in the other after surgical treatment of retinoschisis were observed.
CONCLUSION: Clinical cases of long-term follow-up of two brothers with XLRS are described. OCT is indicated to diagnose, assess the length and the state of the vitreoretinal interface, and monitor XLRS. Electroretignography is a specific and sensitive method for the complex diagnosis of XLRS. Barrier laser retinopexy is indicated for progressive peripheral retinoschisis. The efficacy and safety of carbonic anhydrase inhibitors in patients with XLRS require further study.
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作者简介
Mikhail Karyakin
Multiprofile Clinical Medical Center “Bonum”
Email: mak1@bk.ru
ORCID iD: 0009-0009-4801-9628
SPIN 代码: 9354-7765
MD, Cand. Sci. (Medicine); ophthalmologist
俄罗斯联邦, ЕkaterinburgElena Stepanova
Multiprofile Clinical Medical Center “Bonum”; Ural State Medical University
Email: odoc@bonum.info
ORCID iD: 0009-0009-3949-1701
MD, Cand. Sci. (Medicine)
俄罗斯联邦, Еkaterinburg; ЕkaterinburgSergey Korotkikh
Ural State Medical University
Email: secretar@mcprof.ru
ORCID iD: 0000-0003-3302-1759
SPIN 代码: 7326-7197
MD, Dr. Sci. (Medicine); Professor
俄罗斯联邦, ЕkaterinburgIvan Baksheev
Multiprofile Clinical Medical Center “Bonum”
编辑信件的主要联系方式.
Email: inozitol3f@yandex.ru
ORCID iD: 0000-0002-1613-8704
ophthalmologist
俄罗斯联邦, ЕkaterinburgAnastasia Bolshedvorova
Multiprofile Clinical Medical Center “Bonum”
Email: odoc@bonum.info
ophthalmologist
俄罗斯联邦, ЕkaterinburgSergey Surtaev
Multiprofile Clinical Medical Center “Bonum”
Email: odoc@bonum.info
ophthalmologist
俄罗斯联邦, ЕkaterinburgAlexandra Shustova
Multiprofile Clinical Medical Center “Bonum”
Email: odoc@bonum.info
ophthalmologist
俄罗斯联邦, Еkaterinburg参考
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