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E. M. Pitchon, C. Lemaire, F. Cabot, Q. Zhang, T. David; Familial Association of Bilateral Central Keratoconus and Posterior Polymorphous Endothelial Dystrophy. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3549.
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We report a family associating an asymptomatic central keratoconus and a posterior polymorphous dystrophy. These familial cases validate the existence of a genetic link between these two clinically distinct corneal dystrophies.
After the discovery in an asymptomatic female patient during a screening prior to refractive surgery of a corneal topography compatible with a central keratoconus and focal vesicular endothelial lesions corresponding to a posterior polymorphous dystrophy, we conduct systematic topographies and slitlamp exams on four generations of the patient family.
The great grandmother, grandmother and the patient’s sister are carriers of a central keratoconus and also of a posterior polymorphous dystrophy. All of them are asymptomatic. The keratoconus documented by topography is bilateral, central and sub-clinical in the four women. The vesicular endothelial lesions are focal and unilateral in two cases. The next generation doesn’t show till now any morphological corneal abnormalities.
We report about a familial association between central keratoconus and posterior polymorphous dystrophy, confirming the close genetic links between these two dystrophies. It is to our knowledge the third reported series of cases involving a familial association of a keratoconus and a posterior polymorphous dystrophy. The rarity of this association and the accessibility to four generations of carriers provides an exceptional opportunity for a genetic study. In fact, posterior polymorphous dystrophy is being approached as an allelic variant of keratoconus in the case of mutations identified in the gene VSX-1 (chromosome 20p11.2-20q11.2).
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