| Research Abstract |
In total, 91 Japanese patients who had been clinically diagnosed with GCD, LCD, or RBCD were investigated to determine whether they had mutations in the keratoepithelin gene. We detected seven different missense murations : R555W, R124H, R124C, P501T, L527R, R555Q, and R124L. Of them, P501T was a novel missense mutation responsible for LCD type III (Am J Hum Genet, 1998). Furthermore, eight patients with severe form of corneal dystrophy were proved to have homozygous R124H or R555W kerato-epithelin mutation (Invest Ophthalmol Vis Sci, 1998 and Am J Ophthalmol, 1998). We could detect the mutation responsible for the disease in all 91 families (Cornea, 2000).
Ten patients with X-linked retinoschisis (XLRS) were analyzed. Point mutations in the XLRS1 gene were identified in all 10 patients. Of them, five mutations were newly discovered. Identification of mutations in the XLRS1 gene will facilitate early diagnosis, appropriate therapy, and genetic counseling regarding the prognosis of XLRS (Arch Ophthalmol, 2000).
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