This website provides information on patients with variants in the POC5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by autosomal recessive loss-of-function variants in the POC5 gene is a multisystem disorder characterized by retinitis pigmentosa, diabetes mellitus with insulin resistance, lipodystrophy with liver problems, kidney disease, and muscle complaints.
Not all individuals with a mutation in the POC5 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 POC5 gene.

Anneke Vulto-van Silfhout, MD, PhD, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands, anneke.vulto-vansilfhout@radboudumc.nl

Machteld Oud, PhD, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands, machteld.oud@radboudumc.nl