비침습적인 유전자 검사법으로 진단된 아벨리노 각막이상증의 임상 양상

• 영문명: Clinical Manifestations of Avellino Corneal Dystrophy Diagnosed by Non-invasive Genetic Test
• 발행기관: 대한안과학회
• 저자명: 김정완 김효명 송종석,Jung Wan Kim, M.D., Hyo Myoung Kim, M.D., Ph.D., Jong Suk Song, M.D., Ph.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume49,number9, 1431~1436쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2008.09.15

영문 초록

Purpose: To introduce a new genetic method for the diagnosis of Avellino corneal dystrophy (ACD), which is non-invasive and can be easily performed on an outpatient basis, and to evaluate the relationship between the degree of corneal opacity and age or sex. Methods: A genetic study was performed on 11 patients who had a specific corneal opacity by slit-lamp examination and on four normal patients by using a specific adhesive tape to obtain epidermal keratinocytes. Corneal dystrophy was diagnosed according to the genetic study. Results: All 11 patients were confirmed as having heterozygous ACD. Heterozygous ACD patients were classified into five stages: trace, mild, moderate, severe, or very severe, based on slit-lamp photography status. Corneal stages had no relationship with sex (p=0.982), but the severity of ACD increased with age (p=0.005). Conclusions: A non-invasive sticker-type genetic study kit, the “U-gene test” is a good method to diagnose corneal dystrophy genetically. Avellino corneal dystrophy becomes more severe over time but has no relationship with sex. J Korean Ophthalmol Soc 2008;49(9):1431-1436

키워드

Avellino corneal dystrophy (ACD), Granular dystrophy type II, TGFBI gene