Journal article
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
Nature genetics, Vol.1(4), pp.246-250
07/1992
DOI: 10.1038/ng0792-246
PMID: 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.
Details
- Title: Subtitle
- Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
- Creators
- Edwin M Stone - Department of Ophthalmology, University of Iowa, College of Medicine, Iowa City 52242Brian E NicholsLuan M StrebAlan E KimuraVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.1(4), pp.246-250
- DOI
- 10.1038/ng0792-246
- PMID
- 1302019
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Publisher
- United States
- Language
- English
- Date published
- 07/1992
- Academic Unit
- Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979969602771
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