[Gelatinous drop-like corneal dystrophy: mutation analysis of membrane component, chromosome 1, surface marker 1].

PURPOSE: To investigate mutation in membrane component, chromosome 1, surface marker 1(M1 S1) gene for patients and unaffected relatives of gelatinous drop-like corneal dystrophy(GDLD). MATERIALS AND METHODS: We performed mutation analysis for 11 patients and 18 unaffected relatives from 7 unrelated families with GDLD. They were followed at the Department of Ophthalmology, Juntendo University, Tokyo, and St. Luke's International Hospital, Tokyo. RESULTS: Ten patients including the affected members of 6 families were detected to be homozygotes by transition of a C to T at nucleotide position 352, replacing a glutamine at codon 118 with a stop codon (Q118X), and unaffected relatives were heterozygous for the mutation. One patient and his parents and brother from one family have had no mutation in open reading frame of the M1S1 gene. CONCLUSIONS: In these 6 families the genotypes of Q118X mutation on M1S1 gene were co-segregated with the phenotype. For the patients who have had no mutation, we need further investigation of the 5' upper site, and it is possible that there is another candidate gene for GDLD.