"Mutations in the cilia-enriched phosphoinositide modulator Inpp5e (Inositol polyphosphate-5-phosphatase E) are key contributors to a range of retinal ciliopathies. These include Joubert Syndrome, Retinitis Pigmentosa, and MORM syndrome, highlighting Inpp5e's critical role in maintaining retinal photoreceptor health." (Source https://iovs.arvojournals.org/article.aspx?articleid=2798447)

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"INPP5E belongs to a family of inositol polyphosphate 5-phosphatases, which dephosphorylate the D5 position of the inositol ring. There are 10 mammalian members of the 5-phosphatase family, which play critical yet distinct roles in a number of biological processes, such as the regulation of insulin signaling, vesicular trafficking, synaptic vesicle formation, and hematopoietic cell proliferation." (Source https://www.sciencedirect.com/science/article/pii/S0042698912003021)

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Symptoms of RP include difficulty adapting to dim light after being in bright light, difficulty seeing in dim light, and vision narrowing. Progression of these symptoms vary.  While there's no cure for RP, there are ways to help with vision loss. These include low vision aids, rehabilitation programs, vitamins and supplements have been recommended but efficacy has been debated. Most people with RP don't completely lose their vision, but they may be considered legally blind due to limited peripheral vision.

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