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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family.

A 44-year-old patient with bilateral keratoconus and bilateral Fuchs' dystrophy underwent penetrating keratoplasty. Examination of the patient's family revealed keratoconus in the patient's son and central guttata and abnormal endothelial cells in the patient's mother and daughter. Histopathologic evaluation of the corneal button demonstrated a thinned central epithelium and folds and keratocytes in Bowman's layer consistent with keratoconus. Central guttata, subepithelial bullae, and a decreased number of endothelial cells, consistent with Fuchs' endothelial dystrophy, were also seen. This case demonstrates that two distinct familial corneal diseases can occur in the same patient. Although one cannot conclude inheritance patterns based on this limited evaluation, the findings in this family support previous observations that keratoconus can be familial, and that Fuchs' corneal dystrophy has a female predilection with an autosomal-dominant inheritance pattern.[1]


  1. Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family. Lipman, R.M., Rubenstein, J.B., Torczynski, E. Arch. Ophthalmol. (1990) [Pubmed]
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