This website provides information on patients with mutations in the SCAPER gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SCAPER gene is a multisystem disorder characterized by retinal degeneration (Retinitis Pigmentosa, RP) and intellectual disability. Additional symptoms, including obesity, short stature and brachydactyly, have been described in some patients. Individuals presenting with the full phenotypic spectrum can be diagnosed with Bardet-Biedl Syndrome. However, not all individuals with a mutation in the SCAPER gene have these features, and milder phenotypes, including RP with intellectual disability or nonsyndromic RP have been described.
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 SCAPER gene.
Tamar Ben-Yosef, PhD, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel, firstname.lastname@example.org