COL8A2 유전자 돌연변이 유무에 따른 푹스이상증의 임상적 특징 및 예후
Clinical Characteristics and Prognosis of Fuchs Dystrophy According to COL8A2 Gene Mutation Status
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목적: COL8A2 유전자 돌연변이 유무에 따라 푹스이상증 환자들의 임상적 특징 및 예후에 차이가 있는지 비교해 보고자 하였다. 대상과 방법: 1996년부터 2015년까지 푹스이상증으로 처음 진단 받은 환자 81명(162안)을 COL8A2 유전자 돌연변이 유무에 따라 두 군으로 나누었다. 두 군에 대하여 환자의 성별, 진단 시 나이, 가족력 유무, 당뇨의 유무, 기상 시 시력저하 증상의 유무, 시간경과에 따른 각막두께와 각막내피세포 수의 변화, 각막이식 여부 및 이식 수술 전 상태에 대하여 후향적으로 비교 분석하였다. 결과: 대상자 81명 중 COL8A2 유전자 돌연변이는 12명에서 관찰되었다. 유전자 돌연변이가 있는 군에서 가족력, 당뇨 및 기상 시 시력저하 증상이 유의하게 더 많았다(p=0.021, p=0.024, p=0.044, respectively). 또한, 유전자 돌연변이가 있는 군에서 처음 진단 시 각막두께가 유의하게 더 두꺼웠으며 각막내피세포 수가 유의하게 더 적었고(p=0.020, p=0.005, respectively), 돌연변이가 있을 때 한 환자에서 양안 사이의 각막두께 및 각막내피세포 수의 차이가 더 적었다(p=0.043, p=0.022, respectively). 5년간 경과관찰하던 중 유전자 돌연변이가 있는 군에서 60.0%, 없는 군에서 19.2%가 각막이식을 받아 유의한 차이를 보였다(p=0.014). 결론: COL8A2 유전자 돌연변이 검사를 통하여 초기에 양안성으로 진행 여부 및 각막이식이 필요할 가능성 등의 예후를 예측할 수 있다.
Abstract
Purpose: To compare the clinical characteristics and prognosis of Fuchs dystrophy patients according to COL8A2 gene mutation status. Methods: Eighty-one patients (162 eyes) initially diagnosed with Fuchs dystrophy from 1996 to 2015 were divided into two groups according to COL8A2 gene mutation status. Retrospective analysis was performed comparing gender, age at diagnosis, presence of family history, diabetes mellitus, symptoms of blurred vision in the morning, changes in central corneal thickness and endothelial cell density with time, need for corneal transplantation, and pre-operative corneal status in the two groups. Results: Of the 81 patients, 12 were shown to harbor a COL8A2 gene mutation. Individuals with mutation were significantly associated with presence of family history, diabetes mellitus, and blurred vision in the morning (p = 0.021, p = 0.024, p = 0.044, respectively). They also had significantly thicker central cornea and lower endothelial cell density at the time of diagnosis (p = 0.020, p = 0.005, respectively). The differences in central corneal thickness and endothelial cell density between the two eyes in one patient were significantly smaller in patients with gene mutation (p = 0.043, p = 0.022, respectively). Over a 5-year follow-up period, 60.0% of eyes in patients with gene mutation and 19.2% of eyes in patients without gene mutation underwent corneal transplantation, a significant difference between the two groups (p = 0.014). Conclusions: By testing for COL8A2 gene mutation, early binocular disease progression and the possible need for corneal transplantation in the future can be predicted among patients diagnosed with Fuchs dystrophy.
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