| Literature DB >> 1302019 |
E M Stone1, B E Nichols, L M Streb, A E Kimura, V C Sheffield.
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.Entities:
Mesh：
Year: 1992 PMID： 1302019 DOI： 10.1038/ng0792-246
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330