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J.D. Gottsch, O.H. Sundin, K.W. Broman, H.H. Chang, W.J. Stark, E.C. L. Vito; A Common Locus for Late–Onset Fuchs Corneal Dystrophy: Maps to 18q21.2–q21.32 . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5905.
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© ARVO (1962-2015); The Authors (2016-present)
To identify the genetic basis of late–onset Fuchs corneal dystrophy (FCD) in three large families showing a multigenerational clustering consistent with dominant inheritance of the disease.
Phenotypes and genotypes at 1107 STRP markers were obtained for 43 affected and 33 unaffected individuals in three large families. Two–point and multipoint genetic linkage analysis was carried out with MLINK and Simwalk 2.89.
In each family, the most significant cluster of LOD scores mapped to 18q21.2–q21.3. The highest 2–point LOD score for each family was at D18S1129, with scores of 3.36, 2.88 and 2.45. Combined analysis of all three families yielded a 2–point LOD score of 7.68 at this marker. Multipoint analysis gave a LOD score of 6.0 at D18S1129, assuming dominant inheritiance and high penetrance.
FCD1 at 13qTel–q12 and FCD2, at 18q21, are the two genetic loci we have identified for late–onset FCD. Linkage to 18q21 in three large families suggests widespread involvement of FCD2 in the common late–onset form of FCD.
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