BEST2

The BEST2 gene is associated with the Best2 protein, which is involved in the physiology of intraocular pressure. "Some patients with a concentric RP-like retinal dystrophy, have been found to carry missense mutations in BEST1, three of which appeared autosomal dominant (definition: An inheritance pattern where a single altered copy of a gene, from just one parent, is enough to cause the condition.) while the other appeared autosomal recessive (definition: An inheritance pattern where a person needs an altered copy of a gene from both parents to be affected. Parents with only one copy are usually unaffected carriers.). Among the bestrophin proteins, only Best1 mutations have been linked to human eye disease. Interestingly, evidence from Best2 knockout mice suggests that Best2 protein plays a role in aqueous humor dynamics, as an antagonist of aqueous humor production, and possibly as a modulator of the outflow pathway." (Click here to read source EyeWiki.org) Retinitis pigmentosa (RP) is a group of inherited eye disorders that cause the retina's photoreceptor (definition: A light-sensing cell in the retina. Rods (used for night and peripheral vision) and cones (used for color and detail) are the two types.) cells to degenerate, leading to vision loss. While there is no cure for RP, treatments can help manage the condition and improve symptoms. While there is no current cure for RP, treatments can help manage the condition and improve symptoms. Genetic testing is recommended. Symptoms typically include bight blindness, loss of side vision, and difficulty with peripheral vision. The common cause across all forms of RP is a mutation in one of the many genes that maintain the health of photoreceptor cells. Treatments may include low-vision aids, orientation and mobility training, medications, eye drops, and sunglasses can help protect against bright sunlight Symptoms usually begin in childhood or adolescence. The disease progresses over years or decades. In adulthood, many people with RP become legally blind. Some forms of RP can also be associated with deafness, obesity, kidney disease, and other conditions.