Search for genetic markers for precise diagnostics of keratoconus

Biomedit︠s︡inskai︠a︡ khimii︠a︡
L O SkorodumovaB E Malyugin

Abstract

Keratoconus is a chronic disorder of the cornea, characterized by its progressive thinning, stretching, and conical protrusion. Diagnostics of subclinical keratoconus, as well as its early stages (forme fruste), is a complex problem. The presence of these forms of keratoconus in a patient is one of the reasons for the development of keratectasia after laser refractive surgery. Currently, the role of genetic factors in keratoconus development has been proven. This indicates the possibility of diagnostics of subclinical and forme fruste keratoconus using genetic markers. Knowledge about the patient's genetic susceptibility to keratoconus would allow correcting the tactics of treatment of refractive anomalies and avoiding serious side effects. The studies of causal mutations indicate the genetic heterogeneity of keratoconus, which complicates the development of a diagnostic panel. Selection of candidate variants from the currently known ones based on clear criteria may be one of the approaches for diagnostic markers search. In this review, we have analyzed articles on keratoconus markers in order to form a list of candidate variants for genotyping in the Russian population. The selection criteria took into account the complexes of...Continue Reading

References

Mar 15, 1986·American Journal of Ophthalmology·R H KennedyJ A Dyer
Mar 11, 1998·Survey of Ophthalmology·Y S Rabinowitz
Apr 3, 1998·Matrix Biology : Journal of the International Society for Matrix Biology·L I Smith-Mungo, H M Kagan
Oct 21, 2000·Eye·A R PearsonJ H Sandford-Smith
Apr 30, 2002·Human Molecular Genetics·Elise HéonEdwin M Stone
Feb 27, 2004·Journal of Medical Genetics·F BrancatiB Dallapiccola
Apr 7, 2004·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·O StachsR F Guthoff
Dec 30, 2004·Investigative Ophthalmology & Visual Science·Luigi BiscegliaLeopoldo Zelante
Jan 7, 2005·Journal of Medical Genetics·H HutchingsF Malecaze
Jun 25, 2005·Human Biology·Boris MalyarchukDanuta Miścicka-Sliwka
Jul 19, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yongming G TangHuiying Yang
Jan 25, 2006·Investigative Ophthalmology & Visual Science·Fani SegevDavid E Birk
May 9, 2006·Contact Lens & Anterior Eye : the Journal of the British Contact Lens Association·K H WeedC N J McGhee
Jun 27, 2006·Investigative Ophthalmology & Visual Science·Anthony J AldaveYaron S Rabinowitz
Aug 1, 2006·Investigative Ophthalmology & Visual Science·Nitin UdarM Cristina Kenney
Aug 29, 2006·Investigative Ophthalmology & Visual Science·Xiaohui LiHuiying Yang
Jul 13, 2007·Ophthalmology·J Bradley RandlemanR Doyle Stulting
Aug 28, 2007·Cornea·Anthony J AldaveBaris Sonmez
Jan 9, 2008·American Journal of Human Genetics·Oleg BalanovskyRichard Villems
Jun 27, 2008·Investigative Ophthalmology & Visual Science·Rachael L NiedererCharles N J McGhee
Nov 4, 2008·Investigative Ophthalmology & Visual Science·Luigi BiscegliaLeopoldo Zelante
Nov 18, 2008·Investigative Ophthalmology & Visual Science·Marzena GajeckaBassem A Bejjani
Nov 18, 2008·Cellular and Molecular Life Sciences : CMLS·C VandewalleG Berx
May 2, 2009·Investigative Ophthalmology & Visual Science·Timothy T McMahonJarema Malicki
Jul 7, 2009·American Journal of Human Genetics·Julie M SchultzRobert J Morell
Feb 19, 2010·The British Journal of Dermatology·M Van GeelM A M Van Steensel
Jun 12, 2010·Contact Lens & Anterior Eye : the Journal of the British Contact Lens Association·Miguel Romero-JiménezJames S Wolffsohn
Jun 17, 2010·Proceedings of the Japan Academy. Series B, Physical and Biological Sciences·Toshikazu Nakamura, Shinya Mizuno
Aug 14, 2010·Experimental Eye Research·Simone M Smith, David E Birk
Mar 2, 2011·Investigative Ophthalmology & Visual Science·Martin N NakatsuSophie X Deng
May 17, 2011·Middle East African Journal of Ophthalmology·Dorota M Nowak, Marzena Gajecka
May 31, 2011·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Jessica H MathewJan P G Bergmanson
Oct 15, 2011·American Journal of Human Genetics·Anne E HughesColin E Willoughby
Oct 18, 2011·Investigative Ophthalmology & Visual Science·Kathryn P BurdonJamie E Craig
Nov 3, 2011·European Journal of Human Genetics : EJHG·Marta CzugalaMarzena Gajecka

❮ Previous
Next ❯

Citations

Oct 17, 2020·Vestnik oftalmologii·A V MyagkovL R Bunyatova

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.