Mutations in this gene are associated with one of the most frequent forms of XLRP (RP3, MIM # 300,029), X-linked Cone-Rod Dystrophy 1(CORDX1 MIM # 304,020), X-linked atrophic macular degeneration (MIM # 300,834), and a syndromic form of RP with sino-respiratory infections and with or without deafness (MIM # 300,455). The gene discussed is RPGR; the disease is retinitis pigmentosa 1.