To describe the clinical findings of an autosomal dominant macular dystrophy in a family of Mayan Indian ancestry in Belize, Central America, and to determine its molecular genetic relationship with the original North Carolinian family.
We performed comprehensive ophthalmic examinations on 56 members of a single family living in Chicago, Illinois, and Belize, Central America. Fundus photography and fluorescein angiography were performed on 17 affected subjects and six affected family members were serially examined over a 12-year period. Blood was collected from 26 individuals, and DNA was extracted for genotyping. Two-point linkage, multipoint linkage, and haplotype analysis was performed.
In 17 affected individuals, the clinical features were consistent with the diagnosis of North Carolina macular dystrophy. Multipoint linkage analysis generated a peak lod score of 5.6 in the MCDR1 region. The haplotype associated with the disease was, however, different from that of the original North Carolinian family.
This family has an autosomal dominant macular dystrophy that is clinically indistinguishable from North Carolina macular dystrophy (MCDR1). Our findings indicate that the mutated gene in this Belizean family maps precisely to the same region as that of the North Carolina macular dystrophy (MCDR1) locus. This study provides evidence that MCDR1 occurs in various ethnic groups and that there is no evidence of genetic heterogeneity.Le texte complet de cet article est disponible en PDF.
|*|| This work was supported in part by core grant EY1791 from the National Eye Institute, Bethesda, Maryland (Dr Rabb); an unrestricted research grant from Research to Prevent Blindness, Inc, New York, New York (Dr Rabb); gifts from the Lions of Illinois Foundation, Maywood, Illinois (UIC Eye Center); a research grant from the Illinois Eye Fund, Chicago, Illinois (Dr Rabb); NIH/NEI grant RO1-EY12039 (Dr Small); and The McCone Endowment (Dr Small).