RP2

A Face of RPtbdTBD

Disease Category: x-linked
Patient Population: 10-15% all XLRP
Clinical Trials: 1 complete
Institution(s) Conducting Research: National Eye Institute (NEI)

Where things stand · Treatment

Treatment options

None known

Where things stand · Clinical trials

Studies that may be relevant to review

Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.

Find clinical trialsOpens the Clinical Trials Finder with this gene — you can change or remove it.

Brief description

A clear, everyday-language overview of this gene.

Retinitis pigmentosa 2 (RP2) is a gene that causes a type of retinal degeneration called retinitis pigmentosa (XLRP). RP is an inherited degenerative disease that affects the photoreceptors and retinal pigmented epithelium. RP2 is a GTPase-activating protein that plays a key role in the development and maintenance of photoreceptors. RP2 mutations account for 10–15% of all XLRP cases. At this time, there is no cure for RP, but low vision aids, rehabilitation programs, and vitamins and supplements can help. A clinical trial in 2017 looked at Vitamin A as a supplement to aid in slowing the progression of the vision loss. RP2 mutations cause night blindness in early childhood, followed by progressive vision loss during the day. People with RP2-XLRP often present at a younger age and progress more rapidly than other forms of RP.

Support, accessibility and family guidance(the same for every gene)

This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.

Ask before helping: People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
Low-vision rehabilitation: Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
Accessible technology: Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
School and work: Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
Emotional and community support: A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
Genetic counselling: A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.

Last reviewed: not yet reviewedReviewer: —

Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.