Retinitis pigmentosa (RP)

Retinits pigmentosa (RP) is a degenerative retinal disease. The main symptoms are night blindness, glare sensitivity and visual field loss. Primarily affected are the light-sensitive cells of the retina (photoreceptors) of the "rod" type, which are present outside the center of the retina and most densely in the periphery. "Rods" are responsible for light/dark vision and are active in twilight/night. Visual field loss usually begins in the retinal periphery, and results in what is called "tube or tunnel vision". The clinical course can vary widely even within the same family. Genetic causes for non-syndromic RP have been identified in over 60 different genes.

In quite a few patients, RP occurs in the context of a superordinate syndrome (syndromic RP), e.g.:

Usher syndrome: RP and hearing loss

Bardet-Biedl syndrome: RP and obesity, extra toes/fingers

Alström syndrome: RP and cardiomyopathy, metabolic abnormalities 

In Leber's congenital amaurosis (LCA), marked retinal dystrophy is present from birth.

Since 2018, a first viral gene therapy (Luxturna) is available for RP/LCA patients with disease-causing gene variants in the RPE65 gene.

Additional information can also be found on the homepage of Retina Suisse 

For a description of Goldmann-Favre syndrome, also called ESCS (enhanced S-cone sensitivity syndrome), which can be misdiagnosed as RP, please refer to the webpage of the Ophthalmogenetics Research Group. 

Additional information can also be found on the homepage of Retina Suisse 

Please go for additional Information in English to the homepage of Retina International 

Information for Patients

For inquiries contact:

Ophthalmogenetik E-mail

General information and informed consent

The Department of Ophthalmology carries out genetic analyses of eye diseases in close cooperation with the Department of Human Genetics in the SN EN ISO 15189 accredited Clinical Genomics Lab of the Inselspital. General information and consent forms for genetic analyses are available on the following website: Link