Genetic predictors in keratoconus etiology (literature review)
DOI: 10.32364/2311-7729-2025-25-1-4
S.B. Izmailova1, A.Z. Tsyganov1, L.Ts. Astoyan1, R.A. Zinchenko2, V.V. Kadyshev2
1S. Fyodorov Eye Microsurgery Federal State Institution, Moscow, Russian Federation
2Research Centre for Medical Genetics, Moscow, Russian Federation
Keratoconus is a multifactorial degenerative disease including genetic etiology related to corneal ectasia. While diagnostic methods are updated, the condition incidence has increased to 1 per 100 patients, and it is increasing annually. Keratoconus is associated with autosomal recessive or autosomal dominant inheritance. The review presents updated data on contribution of genetic factors in keratoconus development in humans, as well as on potential manifestation of the condition as one of the symptoms of connective tissue dysplasia. Aim: to analyze updated data on genetic factors influencing keratoconus development and to consider potential association of the disease with connective tissue dysplasia. It has been shown that patients should be referred to a multidisciplinary center as early as possible to a geneticist and an ophthalmologist for a more detailed examination in order to identify serious structural disorders of the visual apparatus and, if necessary, undergo surgery.
Keywords: keratoconus, genetics, connective tissue, cornea, collagen.
For citation: Izmailova S.B., Tsyganov A.Z., Astoyan L.Ts., Zinchenko R.A., Kadyshev V.V. Genetic predictors in keratoconus etiology (literature review). Russian Journal of Clinical Ophthalmology. 2025;25(1):29–35 (in Russ.). DOI: 10.32364/2311-7729-2025-25-1-4
About the authors:
Svetlana B. Izmailova — Dr. Sc. (Med.), Head of the Department of Transplantation and Opto-Reconstructive Surgery of the Anterior Segment of the Eyeball, S. Fyodorov Eye Microsurgery Federal State Institution; 59a, Beskudnikovskii blvd., Moscow, 127486, Russian Federation; ORCID iD 0000-0002-3516-1774
Artyom Z. Tsyganov — Ophthalmologist, Postgraduate Student, S. Fyodorov Eye Microsurgery Federal State Institution; 59a, Beskudnikovskii blvd., Moscow, 127486, Russian Federation; ORCID iD 0000-0003-2959-4319
Lucy Ts. Astoyan — Postgraduate Student, S. Fyodorov Eye Microsurgery Federal State Institution; 59a, Beskudnikovskii blvd., Moscow, 127486, Russian Federation; ORCID iD 0009-0007-5336-0850
Rena A. Zinchenko — Dr. Sc. (Med.), Corresponding Member of the Russian Academy of Sciences, Deputy Director for Scientific and Clinical Work, Head of the Laboratory of Genetic Epidemiology; Head of the Department of Healthcare Organization, Public Health and Medical and Genetic Monitoring, Research Centre for Medical Genetics; 1, Moskvorech'ye str., Moscow, 115522, Russian Federation; ORCID iD 0000-0003-3586-3458
Vitalii V. Kadyshev — C. Sc. (Med.), Assistant Professor, Leading Scientific Officer, Board Certified Ophthalmologist Geneticist, Head of the Department of Ophthalmogenetics, Head of the Scientific and Clinical Center for Eye Disease Genetics, Research Centre for Medical Genetics; 1, Moskvorech'ye str., Moscow, 115522, Russian Federation; ORCID iD 0000-0001-7765-3307
Contact information: Artyom Z. Tsyganov, e-mail: zokogama@yandex.ru
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 20.12.2024.
Revised 10.01.2025.
Accepted 30.01.2025.
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