Clinical Manifestations of Avellino Corneal Dystrophy Diagnosed by Non-invasive Genetic Test.
10.3341/jkos.2008.49.9.1431
- Author:
Jung Wan KIM
1
;
Hyo Myoung KIM
;
Jong Suk SONG
Author Information
1. Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea. crisim@korea.ac.kr
- Publication Type:Original Article
- Keywords:
Avellino corneal dystrophy (ACD);
Granular dystrophy type II;
TGFBI gene
- MeSH:
Adhesives;
Corneal Dystrophies, Hereditary;
Corneal Opacity;
Humans;
Keratinocytes;
Outpatients;
Photography
- From:Journal of the Korean Ophthalmological Society
2008;49(9):1431-1436
- CountryRepublic of Korea
- Language:Korean
-
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.
