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.
Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' Endothelial Dystrophy. Arch Ophthalmol. 1971;85(3):268–272. doi:10.1001/archopht.1971.00990050270002
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