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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