Epidemiologic and Genetic Studies of Keratoconus Patients in Korea.

Joo, Choun Ki; Rho, Chang Rae; Mok, Jee Won; Lee, Young Jun; Kim, Dong Hae; Park, Young Ki

doi:2012.53.6.839

J Korean Ophthalmol Soc > Volume 53(6); 2012 > Article

Original Article

Journal of the Korean Ophthalmological Society 2012;53(6):839-848.
DOI: https://doi.org/10.3341/jkos.2012.53.6.839 Published online June 15, 2012.

Epidemiologic and Genetic Studies of Keratoconus Patients in Korea.

Choun Ki Joo, Chang Rae Rho, Jee Won Mok, Young Jun Lee, Dong Hae Kim, Young Ki Park

¹Department of Ophthalmology and Visual Science, The Catholic University of Korea College of Medicine, Seoul, Korea. ckjoo@catholic.ac.kr
²Catholic institute of Visual Science, The Catholic University of Korea College of Medicine, Seoul, Korea.
³Myungdong St. Mary Eye Center, Seoul, Korea.
⁴Dr. Lee and Park's Eye Clinic, Seoul, Korea.

한국 원추각막 환자의 실태 조사 및 유전 역학 연구

주천기^1,2⋅노창래^1,2⋅목지원²⋅리영준²⋅김동해³⋅박영기⁴

Department of Ophthalmology and Visual Science, The Catholic University of Korea College of Medicine¹, Seoul, Korea
Catholic institute of Visual Science, The Catholic University of Korea College of Medicine², Seoul, Korea
Myungdong St. Mary Eye Center³, Seoul, Korea
Dr. Lee and Park's Eye Clinic⁴, Seoul, Korea

Abstract

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.

Key Words: Genetic analysis;Keratoconus;IL1B LUM;VSX1