Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
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BRIEF DESCRIPTION
ARL6 retinitis pigmentosa (RP) is a type of RP caused by a mutation in the ARL6 gene. ARL6, or ADP-ribosylation factor-like GTPase 6, is a protein that's part of the ARF family of proteins, which regulate cellular functions.
RP is an inherited retinal dystrophy that causes a gradual loss of photoreceptors and retinal pigment epithelium, leading to blindness over several decades. Symptoms usually begin in childhood and include a narrowing of the visual field, or tunnel vision. In some cases, RP can progress to affect central vision.
At present, there is no cure for RP, but treatments can help slow vision loss and restore some sight. RP can also cause other eye problems that can be treated, such as cataracts or swelling in the retina.
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