title: 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 (Zmax > 3.0) to the disease. Multipoint analysis yielded a maximum Lod score of 9.3 in the interval between markers INT2 and D11S871.
authors.affiliation: Department of Ophthalmology, University of Iowa, College of Medicine, Iowa City 52242.
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
authors.forename: B E
authors.initials: BE
authors.lastname: Nichols
authors.forename: L M
authors.initials: LM
authors.lastname: Streb
authors.forename: A E
authors.initials: AE
authors.lastname: Kimura
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005451:Fluorescein Angiography; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D016017:Odds Ratio; D010375:Pedigree; D011336:Probability; D014792:Visual Acuity