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Largest gene in eye may cause most of retinitis pigmentosa

A major research achievement by British and Spanish researchers has reported the source of a series of genetic mutations suspected to cause a large proportion of recessively inherited retinitis pigmentosa (RP). The research has additionally uncovered the largest active gene yet to be found in the eye and the fifth largest in the human body. The finding dramatically increases the volume of information now catalogued on this debilitating group of retinopathies and, since its publication, half a dozen further studies have confirmed the role of the new gene in the aetiology of RP. The report, published in the prestigious journal Nature Genetics [Vol. 40, No. 11, pp 1285-1287] may likely lead to new diagnostic and therapeutic applications.