This website provides information on patients with mutations in the OTX2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the OTX2 gene is a multisystem disorder characterized by ocular, endocrine and craniofacial malformative features
Not all individuals with a mutation in the OTX2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the OTX2 gene.

Julie Plaisancié, MD, PhD, Clinical and Biological French Reference Center for genetic ocular malformations in Toulouse University Hospital, Toulouse, France, plaisancie.j@chu-toulouse.fr

Nicolas Chassaing, MD, PhD, Clinical and Biological French Reference Center for genetic ocular malformations in Toulouse University Hospital, Toulouse, France, chassaing.n@chu-toulouse.fr