Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma
Purpose: clinical and genetic research of primary chronic angle-closure glaucoma (PACG) and age-related macular degeneration (AMD) for prospective pathogenetically-oriented targeted treatment of these condition.Materials and methods. 15 patients with isolated ocular proliferative syndrome were divid...
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| Format: | Article |
| Language: | Russian |
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Real Time Ltd
2023-07-01
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| Series: | Российский офтальмологический журнал |
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| Online Access: | https://roj.igb.ru/jour/article/view/1242 |
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| author | L. M. Balashova N. A. Bakunina A. A. Fedorov Yu. D. Kuznetsova A. V. Popov M. E. Viner |
| author_facet | L. M. Balashova N. A. Bakunina A. A. Fedorov Yu. D. Kuznetsova A. V. Popov M. E. Viner |
| author_sort | L. M. Balashova |
| collection | DOAJ |
| description | Purpose: clinical and genetic research of primary chronic angle-closure glaucoma (PACG) and age-related macular degeneration (AMD) for prospective pathogenetically-oriented targeted treatment of these condition.Materials and methods. 15 patients with isolated ocular proliferative syndrome were divided into 2 groups depending on their diagnosis: 1) 7 patients (14 eyes) aged 55 to 83 with confirmed wet AMD (4 women and 3 men). 2) 8 patients (16 eyes) aged 45 to 80 with chronic PACG (5 women and 3 men). The patients were followed up for 1 to 3 years.Results. In both conditions, we found mutations in the genes of the Russian population involved in the process of proliferation: VEGF A, CFH, and COL11A1. We developed an algorithm of bioinformatic analysis of full-exome/full-genome sequencing data which takes account of the aggregate of clinical and genetic data and helps refine the prognosis of the course of proliferation. Genetic markers remain unchanged throughout the patient’s life, so it is important to conduct these studies in old age.Conclusion. To prevent the proliferative syndrome in patients with chronic PACG and AMD, and develop individual targeted pathogenetic therapy schemes for these diseases, specialized molecular genetic tests are needed, the results of which could be analyzed with the developed algorithm. |
| format | Article |
| id | doaj-art-55d90fc93a1b4b0c9ce8035dea577106 |
| institution | DOAJ |
| issn | 2072-0076 2587-5760 |
| language | Russian |
| publishDate | 2023-07-01 |
| publisher | Real Time Ltd |
| record_format | Article |
| series | Российский офтальмологический журнал |
| spelling | doaj-art-55d90fc93a1b4b0c9ce8035dea5771062025-08-20T02:54:11ZrusReal Time LtdРоссийский офтальмологический журнал2072-00762587-57602023-07-0116211311810.21516/2072-0076-2023-16-2-113-118588Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucomaL. M. Balashova0N. A. Bakunina1A. A. Fedorov2Yu. D. Kuznetsova3A. V. Popov4M. E. Viner5International Scientific and Practical Center for the Proliferation of Tissues of Russia Non-profit partnership; N.I. Pirogov Russian National Research Medical UniversityInternational Scientific and Practical Center for the Proliferation of Tissues of Russia Non-profit partnership; Oftalmic LLC; N.I. Pirogov Clinical Сity Hospital № 1FSBSF Research Institute of Eye Diseases of the Russian Academy of ScienceInternational Scientific and Practical Center for the Proliferation of Tissues of Russia Non-profit partnershipInternational Scientific and Practical Center for the Proliferation of Tissues of Russia Non-profit partnershipOftalmic LLCPurpose: clinical and genetic research of primary chronic angle-closure glaucoma (PACG) and age-related macular degeneration (AMD) for prospective pathogenetically-oriented targeted treatment of these condition.Materials and methods. 15 patients with isolated ocular proliferative syndrome were divided into 2 groups depending on their diagnosis: 1) 7 patients (14 eyes) aged 55 to 83 with confirmed wet AMD (4 women and 3 men). 2) 8 patients (16 eyes) aged 45 to 80 with chronic PACG (5 women and 3 men). The patients were followed up for 1 to 3 years.Results. In both conditions, we found mutations in the genes of the Russian population involved in the process of proliferation: VEGF A, CFH, and COL11A1. We developed an algorithm of bioinformatic analysis of full-exome/full-genome sequencing data which takes account of the aggregate of clinical and genetic data and helps refine the prognosis of the course of proliferation. Genetic markers remain unchanged throughout the patient’s life, so it is important to conduct these studies in old age.Conclusion. To prevent the proliferative syndrome in patients with chronic PACG and AMD, and develop individual targeted pathogenetic therapy schemes for these diseases, specialized molecular genetic tests are needed, the results of which could be analyzed with the developed algorithm.https://roj.igb.ru/jour/article/view/1242age-related macular degenerationgene mutationsproliferative syndromechronic angle-closure glaucoma |
| spellingShingle | L. M. Balashova N. A. Bakunina A. A. Fedorov Yu. D. Kuznetsova A. V. Popov M. E. Viner Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma Российский офтальмологический журнал age-related macular degeneration gene mutations proliferative syndrome chronic angle-closure glaucoma |
| title | Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma |
| title_full | Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma |
| title_fullStr | Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma |
| title_full_unstemmed | Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma |
| title_short | Genetic markers of the proliferative syndrome in age-related macular degeneration and chronic angle-closure glaucoma |
| title_sort | genetic markers of the proliferative syndrome in age related macular degeneration and chronic angle closure glaucoma |
| topic | age-related macular degeneration gene mutations proliferative syndrome chronic angle-closure glaucoma |
| url | https://roj.igb.ru/jour/article/view/1242 |
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