J Korean Ophthalmol Soc.  2003 Dec;44(12):2934-2941.

Four Cases of Avellino Corneal Dystrophy Concurrent with Floppy Eyelid Syndrome

• Kim YS
• Kim HS
• Kim JC

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.

Keyword

Avellino corneal dystrophy; BIGH3 gene; Floppy eyelid syndrome; Mutation; SSCP

MeSH Terms

Eyelids*
Family Characteristics
Humans
Korea
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational