Eye Examination
Diagnosing RP2-associated RP involves a thorough eye exam. This includes tests like:
• Visual field testing: To check side vision.
• Electroretinography (ERG): To measure the activity of the light-sensitive cells in the retina.
• Retinal imaging (OCT and fundus autofluorescence): To take pictures of the retina and look for changes.
Genetic testing
Disease-causing RP2variants are identified by molecular genetic testing using RP multi-gene panel or exome/genome sequencing.
Genetic counselling
Patients and their families should be offered genetic counselling. Carrier testing for female relatives can be performed.
Treatment
There is currently no cure for RP2-associated retinitis pigmentosa. Treatment focuses on helping people manage their vision loss. This can for example include:
• Low vision aids, e.g. devices like magnifiers
• Assistive tools to help with daily tasks
• Protection from bright light (e.g. sunglasses)
• Managing complications like swelling in the macula or cataracts if they develop
Scientists are studying gene therapy as a possible future treatment for this condition, but more research is needed.
Our group has set up a patient registry, called InsightRP2, specifically for RP2-associated RP to collect information that helps with research and the developments of new treatments. Participants can register online. For more information, visit our website https://www.insight-rp2.org or contact us at insight.rp2@med.uni-goettingen.de.
RP2