Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

Abstract

Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early–onset, autosomal dominant form of macular degeneration characterized by an egg–yolk–like collection of lipofuscin beneath the pigment epithelium of the retinal macula. Fifty–seven members of a five–generation family affected with this disease were studied. A combination of ophthalmoscopy and electro–oculography was used for diagnosis; 29 patients were found to be affected and 16 unaffected. Linkage analysis mapped the disease–causing gene to chromosome 11q13. Three markers in this region were found to be significantly linked (Z_max > 3.0) to the disease. Multipoint analysis yielded a maximum Lod score of 9.3 in the interval between markers INT2 and D11S871.