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Y. S. Oleynikov, Y. S. Rabinowitz; A Case of Keratoconus in 3 Siblings From Different Mothers but the Same Father. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3546.
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© ARVO (1962-2015); The Authors (2016-present)
To present an interesting family pedigree with familial keratoconus suggesting autosomal dominance with variable penetrance.
Slit lamp examination, keratoscopy, ophthalmoscopy, computer-assisted videokeratography, and OCT corneal pachymetry mapping.
A family with 3 children from a single father and 3 unrelated mothers presented for clinical evaluation of suspected keratoconus. 3 male children demonstrated classical inferior corneal steepening and corresponding videokeratography indices of variable severity, meeting the diagnostic criteria for keratoconus. Mothers of the three children showed normal corneal profiles. The father’s exam demonstrated only mild asymmetry and shifting of the corneal apex inferiorly in one eye only but was otherwise clinically normal. No family member had a history of allergic disease or admitted to rubbing their eyes habitually.
This report of an interesting family pedigree adds to the increasing body of literature documenting families with autosomal dominant keratoconus and supports our previous studies suggesting that genes play a major role in the development of keratoconus.
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