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주천기,노창래,목지원,리영준,김동해,박영기,Choun-Ki Joo,MD,PhD,Chang Rae Rho,MD,Jee Won Mok,PhD,Young Jun Lee,MD,PhD,Dong Hae Kim,MD,Young Ki Park,MD 대한안과학회 2012 대한안과학회지 Vol.53 No.6
Purpose: To report the characteristics and genetic epidemiology of keratoconus patients in the Korean population based on questionnaires, ophthalmologic findings, and genetic studies. Methods: From September 2007 through August 2009, an epidemiologic investigation was performed through questionnaires and ocular examination of 190 keratoconus patients. To investigate the genetic cause, blood samples were taken from the keratoconus patients. Genetic analysis of keratoconus was performed through the analysis of sensitive candidate genes. Results: The mean age of the study subjects was 29.6 years. Seventy-seven percent of the subjects rubbed their eyes with 17 percent suffering from atopy, allergy, and asthma. Thirty-two percent of subjects demonstrated Vogt’s striae as the most frequent biomicroscopic keratoconus finding. No family history was found. Genetic analysis showed sensitive genetic variations of VSX1, LUM, and IL1B. Conclusions: Epidemiology of Korean keratoconus patients was investigated through research and genetic study resulting in discovery of sensitive genes. J Korean Ophthalmol Soc 2012;53(6):839-848