A North Carolina macular dytrophy phenotype in a Belizean family map to the MCDR1 locu Original Reearch Article

Purpoe To decribe the clinical finding of an autoomal dominant macular dytrophy in a family of Mayan Indian ancetry in Belize, Central America, and to determine it molecular genetic relationhip with the original North Carolinian family. Method We performed comprehenive ophthalmic examination on 56 member of a ingle family living in Chicago, Illinoi, and Belize, Central America. Fundu photography and fluorecein angiography were performed on 17 affected ubject and ix affected family member were erially examined over a 12-year period. Blood wa collected from 26 individual, and DNA wa extracted for genotyping. Two-point linkage, multipoint linkage, and haplotype analyi wa performed. Reult In 17 affected individual, the clinical feature were conitent with the diagnoi of North Carolina macular dytrophy. Multipoint linkage analyi generated a peak lod core of 5.6 in the MCDR1 region. The haplotype aociated with the dieae wa, however, different from that of the original North Carolinian family. Concluion Thi family ha an autoomal dominant macular dytrophy that i clinically inditinguihable from North Carolina macular dytrophy (MCDR1). Our finding indicate that the mutated gene in thi Belizean family map preciely to the ame region a that of the North Carolina macular dytrophy (MCDR1) locu. Thi tudy provide evidence that MCDR1 occur in variou ethnic group and that there i no evidence of genetic heterogeneity.