Clinical Evaluation
A comprehensive ophthalmic examination including visual field testing, electroretinography (ERG), retinal imaging with optical coherence tomography (OCT) and fundus autofluorescence is essential to identify characteristic features. Given the early onset and rapid progression, structured clinical monitoring is important. Follow-up examinations should be scheduled regularly and adapted to disease stage and progression.
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 curative therapy available for RP2-associated RP. Management of RP includes for example using low vision aids and assistive devices, photoprotection like sunglasses and other methods to avoid exposure to too much light as well as treating associated conditions such as cystoid macular edema or cataracts.
Studies indicate that gene-based strategies may be promising for treating patients with RP2-associated RP in the future, and well-characterized animal and cell models (iPSCs) have been used to model the disease and test potential therapies. However, there is still a lack of robust natural history data in genetically proven patients with RP2-associated retinopathy. These data are needed to provide better informed advice on prognosis and optimize design of clinical trials including identifying possible robust outcome measures and participant stratification.
Our group has set up a patient registry specifically for RP2-associated RP (InsightRP2) to support basic, preclinical and clinical research. Fellow health professionals are invited to enroll affected individuals in our study. For more information, visit our website https://www.insight-rp2.org or contact us at insight.rp2@med.uni-goettingen.de.
RP2