ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
BRIEF DESCRIPTION
Mutations in ARL2 binding protein (ARL2BP) can cause autosomal-recessive retinitis pigmentosa (RP). ARL2BP is a protein that's linked to ciliary defects, which can lead to blinding diseases like RP.
ADP-ribosylation factor-like 2 (ARL2) is a protein that's associated with the formation of the outer segment (OS) of photoreceptor cells. ARL2 is thought to be important for recruiting or anchoring ARL2BP at the base of the cilium. ARL2BP is an effector protein of the small GTPases ARL2 and ARL3. In the mouse retina, ARL2BP is found in the basal body, cilium-associated centriole, and periciliary extension of the inner segment. Mutations in ARL2BP can also cause situs inversus, a condition where organs are reversed.
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.