Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Genetic susceptibility to age related macular degeneration
Autore:
Yates, JRW; Moore, AT;
Indirizzi:
Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England Univ Cambridge Cambridge England CB2 2QQ net, Cambridge CB2 2QQ, England Addenbrookes Hosp, Dept Ophthalmol, Cambridge CB2 2QQ, England Addenbrookes Hosp Cambridge England CB2 2QQ , Cambridge CB2 2QQ, England
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 37, anno: 2000,
pagine: 83 - 87
SICI:
0022-2593(200002)37:2<83:GSTARM>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
BEAVER DAM EYE; BLUE-MOUNTAINS EYE; MALATTIA LEVENTINESE; STARGARDT-DISEASE; CIGARETTE-SMOKING; TISSUE INHIBITOR; 5-YEAR INCIDENCE; RISK-FACTORS; MACULOPATHY; DYSTROPHY;
Keywords:
age related macular degeneration; genetic susceptibility;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
56
Recensione:
Indirizzi per estratti:
Indirizzo: Yates, JRW Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Box 134, Cambridge CB2 2QQ, England Univ Cambridge Box 134 Cambridge England CB2 2QQ 2QQ, England
Citazione:
J.R.W. Yates e A.T. Moore, "Genetic susceptibility to age related macular degeneration", J MED GENET, 37(2), 2000, pp. 83-87

Abstract

Age related macular degeneration (AMD) is the leading cause of visual impairment in the elderly and a major cause of blindness in the developed world. The disease can take two forms, geographic atrophy and choroidal neovascularisation. The pathogenesis of AMD is poorly understood. There are undoubtedly environmental and other risk factors involved and the adverse effect of smoking is well. established. Several studies; have shown that genetic factors are important but leave uncertainty about the magnitude and nature ofthe genetic component and whether it varies with the type of AMD. Several hereditary retinal dystrophies show similarities to AMD and these genes arepotential candidate susceptibility genes. Particular interest has focused on the ABCR gene which is responsible for autosomal recessive Stargardt macular dystrophy. it has been claimed that heterozygotes for ABCR mutations are predisposed to AMD but the data are conflicting. Studies of the genes responsible for autosomal dominant Sorsby fundus dystrophy, Doyne honeycomb retinal dystrophy, and Best disease have given negative results. In one large AMD family, linkage has been reported to markers in lq25-q31. Recent datasuggest that the ApoE epsilon 4 allele may be associated with reduced riskof AMD. A better understanding of the genetic factors in AMD would contribute to understanding the pathogenesis. If those: at risk could be identified it may be possible to modify lifestyle or develop novel therapies in the presymptomatic stage to prevent disease or decrease its severity.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 13:21:56