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  • Title: A new case of keratoconus associated with Williams-Beuren syndrome.
    Author: Viana MM, Frasson M, Leão LL, Stofanko M, Gonçalves-Dornelas H, Cunha Pda S, de Aguiar MJ.
    Journal: Ophthalmic Genet; 2013 Sep; 34(3):174-7. PubMed ID: 23167938.
    Abstract:
    BACKGROUND: Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. PURPOSE: To report a new patient with keratoconus and Williams-Beuren syndrome. DISCUSSION: This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.
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