Clinical Manifestations of Avellino Corneal Dystrophy Diagnosed by Non-invasive Genetic Test.

Kim, Jung Wan; Kim, Hyo Myoung; Song, Jong Suk

doi:2008.49.9.1431

J Korean Ophthalmol Soc > Volume 49(9); 2008 > Article

Original Article

Journal of the Korean Ophthalmological Society 2008;49(9):1431-1436.
DOI: https://doi.org/10.3341/jkos.2008.49.9.1431 Published online September 15, 2008.

Clinical Manifestations of Avellino Corneal Dystrophy Diagnosed by Non-invasive Genetic Test.

Jung Wan Kim, Hyo Myoung Kim, Jong Suk Song

Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea. crisim@korea.ac.kr

비침습적인 유전자 검사법으로 진단된 아벨리노 각막이상증의 임상 양상

김정완ㆍ김효명ㆍ송종석

Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea

Abstract

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.

Key Words: Avellino corneal dystrophy (ACD);Granular dystrophy type II;TGFBI gene