Journal article

Identification of a potential susceptibility locus for macular telangiectasia type 2.

Nancy L Parmalee, Carl Schubert, Maria Figueroa, Alan C Bird, Tunde Peto, Mark C Gillies, Paul S Bernstein, Krzysztof Kiryluk, Joseph D Terwilliger, Rando Allikmets, undefined MacTel Project

PLoS One | Public Library of Science (PLoS) | Published : 2012


Macular Telangiectasia type 2 (MacTel) is a relatively rare macular disease of adult onset presenting with distortions in the visual field and leading to progressive loss of visual acuity. For the purpose of a gene mapping study, several pedigrees were ascertained with multiple affected family members. Seventeen families with a total of 71 individuals (including 45 affected or possibly affected) were recruited at clinical centers in 7 countries under the auspices of the MacTel Project. The disease inheritance was consistent with autosomal dominant segregation with reduced penetrance. Genome-wide linkage analysis was performed, followed by analysis of recombination breakpoints. Linkage analys..

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