Four Cases of Avellino Corneal Dystrophy Concurrent with Floppy Eyelid Syndrome.
- Author:
Yun Sang KIM
1
;
Hae Sook KIM
;
Jae Chan KIM
Author Information
1. Department of Ophthalmology, Chung-Ang University College of Medicine, Korea. jck50ey@kornet.net
- Publication Type:Case Report
- Keywords:
Avellino corneal dystrophy;
BIGH3 gene;
Floppy eyelid syndrome;
Mutation;
SSCP
- MeSH:
Eyelids*;
Family Characteristics;
Humans;
Korea;
Polymerase Chain Reaction;
Polymorphism, Single-Stranded Conformational
- From:Journal of the Korean Ophthalmological Society
2003;44(12):2934-2941
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Avellino corneal dystrophy (ACD) is the most common form of inherited corneal disorder in Korea. To report 4 cases of ACD concurrent with floppy eyelid syndrome (FES), which had not been previously reported, and to find an additional mutation. METHODS: Five patient in 2 families who were diagnosed as ACD patient were examined whether they had FES. PCR, cold-SSCP and sequencing analysis were performed for identification of genetic defect. RESULTS: Four of 5 ACD patients showed FES which characterized by easily everted eyelid and conjunctival papillary reaction. In one family, succeeding two generations had this feature. We identified R124H mutation in all 5 ACD patients, however, no additional mutation wsa identified in BIGH3 gene. CONCLUSIONS: One case series suggested that there may be some linkage between the genes responsible for ACD and FES.
