A New Case of Keratoconus Associated with Williams-Beuren Syndrome

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.

• 7q11.23
• keratoconus
• microdeletion
• Williams-Beuren syndrome

Acknowledgments

The molecular analysis was performed as part of the project “Desenvolvimento de metodologia de baixo custo para diagnóstico molecular de síndromes de microdeleção no SUS”, granted by CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico).

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.