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Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population

 Jae Hwan Lee  ;  Stephen M. Cristol  ;  Woon Cho Kim  ;  Eui Sang Chung  ;  Hungwon Tchah  ;  Man Soo Kim  ;  Chung Mo Nam  ;  Hyun-Soo Cho  ;  Eung Kweon Kim Read More: http://informahealthcare.com/doi/abs/10.3109/09286581003624939 
 OPHTHALMIC EPIDEMIOLOGY, Vol.17(3) : 160-165, 2010 
Journal Title
Issue Date
Adolescent ; Adult ; Age Distribution ; Aged ; Child ; Child, Preschool ; Corneal Dystrophies, Hereditary/epidemiology* ; Corneal Dystrophies, Hereditary/genetics ; Extracellular Matrix Proteins/genetics ; Female ; Humans ; Korea/epidemiology ; Male ; Middle Aged ; Models, Theoretical ; Polymorphism, Single Nucleotide ; Prevalence ; Sex Distribution ; Transforming Growth Factor beta/genetics ; Young Adult
Granular corneal dystrophy type 2 ; Avellino corneal dystrophy ; Prevalence study ; Korea ; Mathematical model
PURPOSE: This study investigates the prevalence of granular corneal dystrophy type 2 (GCD2; Avellino corneal dystrophy) in the Korean population. METHODS: GCD2 homozygotes were identified through a collaboration of Korean referral centers for corneal disease. The genetic status of the patients and their immediate families were verified by DNA analysis. A lower bound for the gene prevalence was calculated using a model based on the Hardy-Weinberg principle. A second population-based model was developed to correct for known underestimation in the primary model. The corrected model used population data from the 2005 Korean census and fertility rates from historical Korean census data. RESULTS: We identified 21 individuals homozygous for GCD2 (R124H mutation) from 16 Korean families. From this, we estimate that the overall prevalence (combining heterozygotes and homozygotes) is at least 8.25 affected persons/10,000 persons. Our corrected estimate for overall prevalence is 11.5 affected persons/10,000 persons. CONCLUSION: We present the first estimate of the prevalence of GCD2. Although uncommon, the prevalence of GCD2 in Korea is greater than anticipated. We believe that our approach could potentially be applied to estimating the prevalence of other rare diseases.
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1. College of Medicine (의과대학) > Dept. of Preventive Medicine and Public Health (예방의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
Nam, Jung Mo(남정모) ORCID logo https://orcid.org/0000-0003-0985-0928
Lee, Jae Hwan(이재환)
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