Article
Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.
American journal of ophthalmology - 1 Aug 1998
Okada M, Yamamoto S, Watanabe H, Inoue Y, Tsujikawa M, Maeda N, Shimomura Y, Nishida K, Kinoshita S, Tano Y
Abstract excerpt
PURPOSE: To report a family with several members affected with granular corneal dystrophy Groenouw type 1. Three members of the family were affected with a severe placoid type of corneal dystrophy. To determine the relationship between gene mutations and phenotypic variations of the disease, we a...
Topics
- Adolescent
- Adult
- Child
- Consanguinity
- Cornea
- Corneal Dystrophies, Hereditary
- DNA Primers
- Extracellular Matrix Proteins
- Female
- Homozygote
- Humans
- Male
- Neoplasm Proteins
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational