J Korean Ophthalmol Soc.  2002 Dec;43(12):2506-2512.

Genetic Analysis of Korean Patients with Corneal Dystrophy

• Song IK
• Kim HS
• Korea Cornea Disease Study Group (KCDSG)
• Joo CK

Abstract

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.

Keyword

BIGH3 gene; Mutation; Corneal dystrophy; Inherited corneal disease

MeSH Terms

Diagnosis
DNA
Exons
Humans
Keratoconus
Korea
Pedigree
Polymerase Chain Reaction
DNA