InsightRP2 is a secure online patient registry specific to RP2-associated retinitis pigmentosa (RP). It is our goal to further the scientific understanding of this rare disease and to support research in to a gene therapy for RP2-associated RP.
We collect medical, genetic and imaging data from people affected by RP2-associated RP and will coduct a natural history study as well as image analysis studies.
A molecular genetic diagnosis involving a heterozygous or hemizygous variant in RP2 and a written informed consent to participate are required for access to the registry questionnaire. Patients of all ages meeting the above criteria will be allowed to participate. As documentation will be in English and German, those who can navigate these pages will be included.
Patients with evidence of non-RP2 molecular genetic diagnoses will be excluded. Collection of data and further analysis will not be possible without the consent of the patient or legal guardian. Patients who cannot navigate registry documentation in English or German will be excluded.
Individuals affected by RP2-associated Retinitis pigmentosa worldwide.
Cohort
Other
Not listed
Genotype-phenotype correlation age of onset
Influence of variant type on age of onset
Phenotype-genotype correlation progression
Influence of variant type on disease progression
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