Four Cases of Avellino Corneal Dystrophy Concurrent with Floppy Eyelid Syndrome

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.

Genetic Analysis of Korean Patients with Corneal Dystrophy

PURPOSE: We collected genomic DNAs of Korean patients with inherited corneal disorders, and identified mutations of the BIGH3 gene related corneal dystrophies in Korean patients: Lattice type I (CDLI), Avellino (ACD), Reis-Buckler's (CDRB). METHODS: Slit-lamp examination of 75 patients and their relatives was carried out to confirm the diagnosis of the disorders. We composed pedigree and extracted genomic DNAs from members of the CDaffected family and individual patients. Genomic DNAs of the patients with mutation in BIGH3 gene were identified using Polymerase chain reaction (PCR) and sequencing. RESULTS: The number of patients was ranked as follows: 30 patients (40.0%) with ACD, 24 patients (32.0%) with keratoconus, 7 patients (9.3%) with CDLI, 5 patients (6.7%) with Fuchs' dystrophy, 3 patients (4.0%) with CDRB. In the genetic examination, we identified R124H mutation in ACD, R124C mutation in CDLI and R555Q mutation in CDRB. During this study, we also identified a polymorphism (F540F) in exon 12. CONCLUSIONS: ACD associated with R124H mutation is the most common form of inherited corneal disorder in Korea. And in Korean patients with CDRB, this study is the first report about mutation R555Q.