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RP2

Disease Category: x-linked

Patient Population: 10-15% all XLRP

Active Clinical Trials: 1 complete

Treatment Options: None known

Strategies to Preserve Eye Health: Vitamin A part of clinical trial

Institution(s) Conducting Research: National Eye Institute (NEI) 

A FACE OF RP

Image by Marc Schulte

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BRIEF DESCRIPTION

Retinitis pigmentosa 2 (RP2) is a gene that causes a type of retinal degeneration called X-linked 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. 

IN THE NEWS

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