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March 1971

Inheritance of Fuchs' Endothelial Dystrophy

Author Affiliations

From the Wilmer Institute, the Johns Hopkins University School of Medicine, and the Johns Hopkins Hospital, Baltimore.

Arch Ophthalmol. 1971;85(3):268-272. doi:10.1001/archopht.1971.00990050270002

Two pedigrees contain seven individuals with documented Fuchs' endothelial dystrophy. A review of all previously reported familial cases reveals one pedigree with sufficient useful data for genetic analysis. Study of these three pedigrees together with segregation analysis suggests an autosomal dominant mutation as the most likely etiology, although alternative etiologies cannot be ruled out for other cases. An apparent female predilection for this disorder is present in the two reported sibships, which is similar to previously reported cases, but reduced penetrance of the gene cannot be documented.