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.
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.
Authors: Soraya Mediero; Oriana D'Anna Mardero; Ana Boto de Los Bueis; Susana Noval Martín; Sixto García-Miñaur Journal: Int J Ophthalmol Date: 2017-04-18 Impact factor: 1.779
Authors: Dimitrios Karamichos; Paulina Escandon; Brenda Vasini; Sarah E Nicholas; Lyly Van; Deanna H Dang; Rebecca L Cunningham; Kamran M Riaz Journal: Prog Retin Eye Res Date: 2021-11-02 Impact factor: 19.704