Analysis of associations of undifferentiated connective tissue dysplasia with the development of primary open-angle glaucoma. Clinical and genetic aspects

Zhuravleva A.N.

Helmholtz National Medical Research Center of Eye Diseases

ORCID: 0000-0001-8381-2124

Satybaldyev A.M.

V.A. Nasonova Research Institute of Rheumatology

Zinchenko R.A.

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

Kirillova M.O.

Helmholtz National Medical Research Center of Eye Diseases

Kadyshev V.V.

N.P. Bochkov Research Centre for Medical Genetics

ORCID: 0000-0001-7765-3307

Analysis of associations of undifferentiated connective tissue dysplasia with the development of primary open-angle glaucoma. Clinical and genetic aspects

Authors:

Zhuravleva A.N., Satybaldyev A.M., Zinchenko R.A., Kirillova M.O., Kadyshev V.V.

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Journal: Russian Annals of Ophthalmology. 2021;137(6): 74‑80

DOI: 10.17116/oftalma202113706174

Downloaded: 40

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To cite this article:

Zhuravleva AN, Satybaldyev AM, Zinchenko RA, Kirillova MO, Kadyshev VV. Analysis of associations of undifferentiated connective tissue dysplasia with the development of primary open-angle glaucoma. Clinical and genetic aspects. Russian Annals of Ophthalmology. 2021;137(6):74‑80. (In Russ.)
https://doi.org/10.17116/oftalma202113706174

Подписка 2025 (Russian Annals of Ophthalmology)

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PURPOSE

To study the associations between systemic manifestations of undifferentiated connective tissue dysplasia (uCTD) and the development of POAG based on clinical and molecular genetic studies.

MATERIAL AND METHODS

The observational study was conducted in the period from 2008 to 2021 (12 full years) and included retrospective data analysis of up to 15 years. The study involved 60 people with «suspected glaucoma» diagnosis and burdened heredity, who were divided into groups according to the severity of phenotypic signs of uCTD (on the T.I. Kadurina scale), as well as 15 people with «glaucoma» diagnosis whose morphological and immunohistochemical studies of the sclera were analyzed retrospectively. The comparison group consisted of 64 relatively healthy individuals. All patients underwent clinical-anamnestic, molecular-genetic, standard and special ophthalmological studies.

RESULTS

Significant associations were revealed between the development of POAG, and the presence of clinical and phenotypic manifestations of uCTD, carriage of the GT genotype and the T allele of the rs8136803 (TIMP3) polymorphism, the AG genotype and the A allele of the rs652438 polymorphism (MMP12), the GA genotype and the A allele of the rs3825942 polymorphism (LOXL1).

CONCLUSION

The specific features of preclinical morphofunctional changes and glaucoma progression can be determined by a hereditary predisposition to the pathology of the connective tissue of the eye. Testing of clinical-phenotypic and molecular-genetic signs of uCTD in patients with suspected glaucoma is promising in preclinical diagnosis, prognosis, and personalized approach to prevention and treatment.

Keywords:

primary open-angle glaucoma

connective tissue

pathogenesis of glaucoma

undifferentiated connective tissue dysplasia

«scleral component»

preclinical diagnosis of glaucoma

personalized approach to treatment

polymorphism

genotype

Authors:

Zhuravleva A.N.

Helmholtz National Medical Research Center of Eye Diseases

ORCID: 0000-0001-8381-2124

Satybaldyev A.M.

V.A. Nasonova Research Institute of Rheumatology

Zinchenko R.A.

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

Kirillova M.O.

Helmholtz National Medical Research Center of Eye Diseases

Kadyshev V.V.

N.P. Bochkov Research Centre for Medical Genetics

ORCID: 0000-0001-7765-3307

Received:

06.08.2021

Accepted:

21.10.2021

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