아벨리노 각막이상증 진단에 있어 DNA 칩의 민감도 및 특이도 평가

Evaluation of Sensitivity and Specificity of DNA Chip for Diagnosis of Granular Corneal Dystrophy II

Purpose: To evaluate the sensitivity and specificity of the DNA chip method in diagnosing patients with granular corneal dystrophy type II (GCD II) induced by mutation of the βigh3 gene. Methods: Two hundred twenty-seven patients who visited Severance Eye hospital, corneal dystrophy clinic, from 1 July 2006 to 30 September 2007 were included in this study after history taking and review of their medical records. All subjects were examined by slit lamp microscopy, and blood sampling was done. The sampled blood was used in DNA sequencing and the DNA chip method. Results: Among 227 subjects, 125 (54.6%) patients had GCD II and 103 (45.4%) patients showed normal results according to the DNA sequencing method. The sensitivity and specificity of the DNA chip method were both 100%, while the sensitivity of the slit lamp method was 99.19% and the specificity was 100%. Conclusions: The DNA chip method for diagnosing GCD II is a more simple, time-saving, and accurate method than DNA sequencing method, and the sensitivity and specificity were both 100%. J Korean Ophthalmol Soc 49(8):1220-1225, 2008