glaucomaНациональный журнал ГлаукомаNational Journal glaucoma2078-41042311-6862Federal State Budgetary Institution of Science “Krasnov Research Institute of Eye Diseases”10.53432/2078-4104-2022-21-4-65-78glaucoma-418Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSНаследственные глаукомы: клинико-генетическая характеристикаHereditary glaucoma: clinical and genetic characteristicshttps://orcid.org/0000-0002-4437-9070ОганезоваЖ. Г.OganezovaZh. G.

Оганезова Жанна Григорьевна – кандидат медицинских наук, доцент кафедры офтальмологии им. А.П. Нестерова лечебного факультета, РНИМУ им. Н.И. Пирогова Минздрава России; доцент кафедры офтальмогенетики, Институт ВиДПО МГНЦ.

117997, Москва, ул. Островитянова, 1; 115522, Москва, ул. Москворечье, 1

Cand. Sci. (Med.), Associate Professor at the Academic Department of Ophthalmology named after academician A.P. Nesterov, Pirogov Russian National Research Medical University; Associate Professor at the Academic Department of Ophthalmogenetics, Research Center for Medical Genetics.

1 Ostrovityanov St., Moscow, 117437; 1 Moskvorechye St., Moscow, 115522

jannaogan@mail.ruhttps://orcid.org/0000-0001-7765-3307КадышевВ. В.KadyshevV. V.

Кандидат медицинских наук, ведущий научный сотрудник лаборатории генетической эпидемиологии, заведующий кафедрой офтальмогенетики, руководитель научно-клинического центра генетики глазных болезней.

115522, Москва, ул. Москворечье, 1

Cand. Sci. (Med.), Senior Researcher at the Laboratory of Genetic Epidemiology, Head of the Department of Ophthalmogenetics, Head of the Research Clinical Center of the Genetics of Eye Diseases.

1 Moskvorechye St., Moscow, 115522

https://orcid.org/0000-0002-6495-7173ЕгоровЕ. А.EgorovE. A.

Доктор медицинских наук, профессор, заведующий кафедрой офтальмологии имени академика А.П. Нестерова.

117997, Москва, ул. Островитянова, 1

Dr. Sci. (Med.), Professor, Head of the Academic Department of Ophthalmology named after Academician A.P. Nesterov.

1 Ostrovityanov St., Moscow, 117437

Российский национальный исследовательский медицинский университет имени Н. И. Пирогова Минздрава России; Институт высшего и дополнительного профессионального образования Медико-генетического научного центраРоссияPirogov Russian National Research Medical University; Research Center for Medical GeneticsRussian FederationИнститут высшего и дополнительного профессионального образования Медико-генетического научного центраРоссияResearch Center for Medical GeneticsRussian FederationРоссийский национальный исследовательский медицинский университет имени Н. И. Пирогова Минздрава РоссииРоссияPirogov Russian National Research Medical UniversityRussian Federation2022251120222146578Copyright © Оганезова Ж.Г., Кадышев В.В., Егоров Е.А., 20222022Оганезова Ж.Г., Кадышев В.В., Егоров Е.А.Oganezova Z.G., Kadyshev V.V., Egorov E.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.glaucomajournal.ru/jour/article/view/418

Обзор посвящен генетической природе врожденной глаукомы (ВГ). Приводятся клинико-генетические формы наследственных глауком и единичные нуклеотидные полиморфизмы, идентифицированные на основании полногеномного поиска ассоциаций (GWAS). Глаукома является гетерогенным заболеванием, пациенты с одним и тем же клиническим диагнозом часто могут иметь различные молекулярные причины заболевания. В патогенезе гидрофтальма доказана роль мутации гена CYP1B1, при ювенильной открытоугольной глаукоме — гена MYOC, при аниридии — гена PAX6, при аномалии/синдроме Аксенфельда – Ригера выявлены мутации генов PITX2, FOXC1, аномалия Петерса характеризуется мутациями в генах PAX6, CYP1B1, PITX2, FOXC1. Установлено, что пациенты с открытоугольной глаукомой в 4-43% случаев имеют семейный анамнез, обусловленный мутацией в генах MYOC, OPTN либо TBK1. Генетические исследования глаукомы являются первыми шагами для разработки нового поколения персонализированных методов лечения. В статье описаны ключевые особенности патогенеза различных генетических форм глаукомы и направления их возможной терапии. Однако генная терапия требует дальнейшего изучения как отдаленных последствий, так и долгосрочной эффективности. Молекулярно-генетическая диагностика глаукомы позволяет персонализировано проводить медико-генетическое консультирование семьи с учетом генетических рисков.

The review is devoted to the genetic nature of congenital glaucoma (CG) and presents clinical and genetic forms of hereditary glaucoma and single nucleotide polymorphisms identified by genome-wide association studies (GWAS). Glaucoma is a genetically heterogeneous disease, and patients with the same clinical diagnosis often have different molecular causes. The role of mutations in the CYP1B1 gene has been proven in the pathogenesis of hydrophthalmos; the MYOC gene — in juvenile open-angle glaucoma; the PAX6 gene — in aniridia; mutations in the PITX2, FOXC1 genes have been identified in Axenfeld-Rieger anomaly/syndrome. It has been established that 4–43% of patients with open-angle glaucoma have a family history of a mutation in the MYOC, OPTN or TBK1 genes. Genetic studies of glaucoma are the first steps to developing a new generation of personalized treatments. The article describes the key features of the pathogenesis of various genetic forms of glaucoma and the possible course of its therapy. However, gene therapy requires further study of both long-term effects and efficacy. Molecular genetic diagnosis of glaucoma allows for personalized genetic counseling of family members with consideration of the genetic risks.

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The authors declare that there are no conflicts of interest present.