| Clinical Characteristics and Prognosis of Fuchs Dystrophy According to COL8A2 Gene Mutation Status. |
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Hyun Ah Kim, Woong Joo Whang, Jee Hye Lee, Hyojin Chae, Myungshin Kim, Man Soo Kim |
1Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea. mskim@catholic.ac.kr
2Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
3Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea. |
| COL8A2 유전자 돌연변이 유무에 따른 푹스이상증의 임상적 특징 및 예후 |
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김현아1⋅황웅주1⋅이지혜1⋅채효진2,3⋅김명신2,3⋅김만수1 |
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가톨릭대학교 의과대학 안과 및 시과학교실1, 가톨릭대학교 의과대학 진단검사의학교실2, 가톨릭대학교 의과대학 서울성모병원 유전진단검사센터3 |
Correspondence:
Man Soo Kim,
Email: mskim@catholic.ac.kr
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Received: 26 January 2017 • Revised: 21 February 2017 • Accepted: 30 March 2017 |
| 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. |
| Key Words:
COL8A2;Fuchs dystrophy |
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