Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy

Fiona C. Mansergh, Paul F. Kenna, Günther Rudolph, Thomas Meitinger, G. Jane Farrar, Rajendra Kumar-Singh, Janice Scorer, Anna M. Hally, Lesley Mynett-Johnson, Marian M. Humphries, Sophie Kiang, Peter Humphries

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.

Original languageEnglish
Pages (from-to)855-858
Number of pages4
JournalJournal of Medical Genetics
Issue number11
StatePublished - Nov 1995
Externally publishedYes


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