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  • Title: Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
    Author: Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC.
    Journal: Nat Genet; 1992 Jul; 1(4):246-50. PubMed ID: 1302019.
    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.
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