This website provides information on patients with mutations in the RP2gene, including clinical data, molecular data, management and research options.
Mutations in the RP2gene are associated with X-linked retinitis pigmentosa. Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal dystrophies characterized by progressive degeneration of photoreceptor cells, leading to visual impairment and blindness. Pathogenic RP2variants cause a severe form of RP, with hallmark clinical features manifesting as night blindness in early childhood, followed by progressive peripheral vision loss and central vision decline.
Not all individuals with a mutation in the RP2gene 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 RP2gene.
We invite clinicians who have identified a mutation in RP2in a patient to submit their data to the database.
Professor Bernd Wollnik, MD, Institute of Human Genetics, University Medical Center Göttingen, Germany, bernd.wollnik@med.uni-goettingen.de
Nina Bögershausen, MD, Institute of Human Genetics, University Medical Center Göttingen, Germany, nina.boegershausen@med.uni-goettingen.de
RP2