Gelatino-lattice corneal dytrophy: clinical feature and mutational analyi

PURPOE: To report five unrelated Japanee individual with “gelatino-lattice” corneal dytrophy that clinically reembled, to ome extent, gelatinou drop-like corneal dytrophy and lattice corneal dytrophy type 1. METHOD: Genomic DNA iolated from the five individual with “gelatino-lattice” corneal dytrophy wa ued a a template for polymerae chain reaction to amplify all exon of the candidate gene βig-h3 and M11. The polymerae chain reaction product wa then equenced. REULT: In all cae, βig-h3 wa mutated in “gelatino-lattice” corneal dytrophy (Arg124Cy), which i the ame nucleotide change examined previouly in lattice corneal dytrophy type 1. On the other hand, no mutation wa detected in the entire coding region of M11. CONCLUION: Baed on the reult of thi tudy, it i uggeted that “gelatino-lattice” corneal dytrophy may be a ubtype of lattice corneal dytrophy type 1.