This website provides information on patients with mutations in the CEP78 gene, including clinical data, molecular data, management and research options.
Mutations in the CEP78 gene lead to a syndrome characterized by cone-rod degeneration (a progressive form of retinal degeneration) and sensorineural hearing loss. This clinical entity is clearly distinct from Usher syndrome, which is defined as a disorder characterized by retinitis pigmentosa (another form of retinal degeneration) and sensorineural hearing loss. This syndrome can be considered as a ciliopathy.
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 CEP78 gene.
Pietro Farinelli, PhD, University of Copenhagen, Copenhagen, Denmark, firstname.lastname@example.org
Konstantinos Nikopoulos, PhD, University of Lausanne and Lausanne University Hospital (CHUV), Lausanne, Switzerland, email@example.com
Carlo Rivolta, PhD, Professor, University of Leicester, Leicester, United Kingdom, firstname.lastname@example.org