Molecular genetic aspects of keratoconus pathogenesis

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Abstract

Keratoconus is a bilateral, progressive corneal disease affecting all ethnic groups around the world. It is one of the major ocular problems with significant social impacts as the disease affects young generation, and is the leading cause of corneal transplantation. Although keratoconus is associated with genetic and environmental factors, its precise etiology is not yet established. Results from complex segregation analysis and patterns of gene expression show that genetic abnormalities may play an essential role in the susceptibility to keratoconus. There is a strong association between the polymorphism of a number of genes and corneal curvature. These polymorphisms explain only a small percentage of keratoconus cases, so genetic influences on keratoconus are most likely complex and varied. The aim of this review is to briefly provide the current knowledge on the genetic keratoconus basis - to understand the disease pathogenesis.

About the authors

Alexey N Kulikov

S.M. Kirov Military Medical Academy

Author for correspondence.
Email: alexey.kulikov@mail.ru

MD, PhD, DMedSc, professor, head of the department. Ophthalmology Department

Russian Federation, Saint Petersburg, Russia

Sergey V Churashov

S.M. Kirov Military Medical Academy

Email: Churashoff@mail.ru

MD, PhD, DMedSc, assistant professor, professor. Ophthalmology Department

Russian Federation, Saint Petersburg, Russia

Tatiana A Kamilova

S.M. Kirov Military Medical Academy

Email: Kamilovaspb@mail.ru

PhD, Biology, senior research associate. Scientific research laboratory (tissue engineering) of the Scientific research department (of the medical biological research) of the Scientific research center

Russian Federation, Saint Petersburg, Russia

Vladimir A Reituzov

S.M. Kirov Military Medical Academy

Email: varvar.61@mail.ru

MD, PhD, assistant professor. Ophthalmology Department

Russian Federation, Saint Petersburg, Russia

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Copyright (c) 2017 Kulikov A.N., Churashov S.V., Kamilova T.A., Reituzov V.A.

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This work is licensed under a Creative Commons Attribution 4.0 International License.
 


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