CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
Nature Genetics 1992 July
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.
Full text links
Trending Papers
Management of type 2 diabetes in the new era.Hormones : International Journal of Endocrinology and Metabolism 2023 September 14
Beta-blocker therapy in patients with acute myocardial infarction: not all patients need it.Acute and critical care. 2023 August
The pathophysiology, diagnosis, and management of sepsis-associated disseminated intravascular coagulation.Journal of Intensive Care 2023 May 24
Pharmacological Treatments in Heart Failure With Mildly Reduced and Preserved Ejection Fraction: Systematic Review and Network Meta-Analysis.JACC. Heart Failure 2023 August 26
Hypertensive Heart Failure.Journal of Clinical Medicine 2023 August 3
SGLT2 Inhibitors vs. GLP-1 Agonists to Treat the Heart, the Kidneys and the Brain.Journal of Cardiovascular Development and Disease 2023 July 31
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app