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Joo, Rho, Mok, Lee, Kim, and Park: Epidemiologic and Genetic Studies of Keratoconus Patients in Korea
Original Article
Journal of the Korean Ophthalmological Society

Journal of the Korean Ophthalmological Society 2012; 53(6): 839-848.

Published online: 16 June 2012

DOI: https://doi.org/10.3341/jkos.2012.53.6.839

Epidemiologic and Genetic Studies of Keratoconus Patients in Korea

Choun-Ki Joo, MD, PhD1, 2, Chang Rae Rho, MD1, 2, Jee Won Mok, PhD2, Young Jun Lee, MD, PhD2, Dong Hae Kim, MD3, Young Ki Park, MD4

1Department of Ophthalmology and Visual Science, The Catholic University of Korea College of Medicine, Seoul, Korea.

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.

Address reprint requests to Choun-Ki Joo, MD, PhD. Eye Center, Seoul St. Mary's Hospital, #222 Banpo-daero, Seocho-gu, Seoul 137-701, Korea. Tel: 82-2-2258-1188, Fax: 82-2-599-7405, ckjoo@catholic.ac.kr

Received 28 March 2011       Accepted 29 April 2012

Copyright © 2012 The Korean Ophthalmological Society

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.

Keywords: Genetic analysis, Keratoconus, IL1B LUM, VSX1

Figures and Tables

Table 1
Age at diagnosis and at clinic visit of keratoconus patients
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Table 2
Age of keratoconus patients at initiation of correction
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Table 3
Method of vision correction at initial trial and at present in keratoconus patients
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Table 4
Age at initial contact lens trial of keratoconus patients
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Table 5
Frequency of eye rubbing in patients with keratoconus
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Table 6
Severity of eye rubbing in patients with keratoconus
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Table 7
Proportion of patients with the following slit-lamp biomicroscopic findings
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Table 8
Primers for genetic screening in Korean keratoconus patients
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Table 9
Genotype and allele frequencies of VSX1 mutation in keratoconus patients
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Table 10
Genotype and allele frequencies of VSX1 polymorphisms in keratoconus patients
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Table 11
Genotype and allele frequencies of IL1B and IL1RN variants in keratoconus patients
jkos-53-839-i011
Table 12
Genotype and allele frequencies of lumican gene variants in keratoconus patients
jkos-53-839-i012

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