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• W1976832986 abstract "Cone-rod dystrophies (CRD) are forms of inherited retinal dystrophy which characteristically lead to early impairment of vision. An initial loss of colour vision (cone mediated functions) and of visual acuity, usually from the first or second decade of life, is followed by night blindness (largely rod mediated) and loss of peripheral visual fields.1 CRD patients suffer from severe photophobia and show reduced ERG responses. In later life, vision may be reduced to a bare perception of light. CRD is a milder condition compared to Leber congenital amaurosis (LCA) which is the most severe form of all the inherited retinal dystrophies and is diagnosed as bilateral congenital blindness, with a diminished or absent electroretinogram (ERG). Cone-rod dystrophy loci have been mapped to chromosomes 17q,2 19q,3 18q,4 17p13,5,6 6q,7 1q12,8 and 8p11.9 Mutations in the peripherin/RDS ,10 CRX ,11,12 and RetGC-I 13,14 genes have been shown to cause autosomal dominant CRD. Mutations in the ATP binding cassette transporter rim protein ( ABCR) gene have been shown to be associated with autosomal recessive CRD.15 Mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP gated channel have also been reported to cause cone photoreceptor disorders.16The RPGRIP1 protein (retinitis pigmentosa GTPase regulator interacting protein 1, MIM 605446) is encoded by the gene located on chromosome 14q11. It consists of 24 exons and the predicted size of its protein product is 1259 amino acids. It is expressed specifically in the rod and cone photoreceptors and is a structural component of the ciliary axoneme. One of its functions is to anchor the RPGR protein within the photoreceptor connecting cilium.17 Recently, in an in vivo investigation of RPGRIP1 function and its physical interaction, it has been shown that …" @default.
• W1976832986 created "2016-06-24" @default.
• W1976832986 creator A5062922752 @default.
• W1976832986 date "2003-08-01" @default.
• W1976832986 modified "2023-09-29" @default.
• W1976832986 title "Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy" @default.
• W1976832986 cites W144315726 @default.
• W1976832986 cites W1481259282 @default.
• W1976832986 cites W1485110289 @default.
• W1976832986 cites W1503465019 @default.
• W1976832986 cites W1506156457 @default.
• W1976832986 cites W1523562895 @default.
• W1976832986 cites W1543868019 @default.
• W1976832986 cites W1551414516 @default.
• W1976832986 cites W1559668616 @default.
• W1976832986 cites W1564557960 @default.
• W1976832986 cites W1565206912 @default.
• W1976832986 cites W1571786712 @default.
• W1976832986 cites W1573953582 @default.
• W1976832986 cites W1595517494 @default.
• W1976832986 cites W1605661417 @default.
• W1976832986 cites W1689494938 @default.
• W1976832986 cites W1733541714 @default.
• W1976832986 cites W186203702 @default.
• W1976832986 cites W1893536949 @default.
• W1976832986 cites W1925208328 @default.
• W1976832986 cites W1934232739 @default.
• W1976832986 cites W1965265115 @default.
• W1976832986 cites W1968360064 @default.
• W1976832986 cites W1969765285 @default.
• W1976832986 cites W1971234951 @default.
• W1976832986 cites W1972682877 @default.
• W1976832986 cites W1974924783 @default.
• W1976832986 cites W1977945634 @default.
• W1976832986 cites W1979182088 @default.
• W1976832986 cites W1980039229 @default.
• W1976832986 cites W1981761453 @default.
• W1976832986 cites W1982144770 @default.
• W1976832986 cites W1983323046 @default.
• W1976832986 cites W1983441272 @default.
• W1976832986 cites W1983538981 @default.
• W1976832986 cites W1985844587 @default.
• W1976832986 cites W1985897852 @default.
• W1976832986 cites W1987500038 @default.
• W1976832986 cites W1987959828 @default.
• W1976832986 cites W1988710781 @default.
• W1976832986 cites W1988734704 @default.
• W1976832986 cites W1994356404 @default.
• W1976832986 cites W1994441876 @default.
• W1976832986 cites W1995762981 @default.
• W1976832986 cites W1995931698 @default.
• W1976832986 cites W1999321816 @default.
• W1976832986 cites W1999732796 @default.
• W1976832986 cites W2001258881 @default.
• W1976832986 cites W2002789965 @default.
• W1976832986 cites W2003819290 @default.
• W1976832986 cites W2005666133 @default.
• W1976832986 cites W2006354120 @default.
• W1976832986 cites W2007214149 @default.
• W1976832986 cites W2007371357 @default.
• W1976832986 cites W2008148930 @default.
• W1976832986 cites W2008396993 @default.
• W1976832986 cites W2009100363 @default.
• W1976832986 cites W2009444698 @default.
• W1976832986 cites W2009581629 @default.
• W1976832986 cites W2010365111 @default.
• W1976832986 cites W2010923817 @default.
• W1976832986 cites W2011060936 @default.
• W1976832986 cites W2011355532 @default.
• W1976832986 cites W2013207268 @default.
• W1976832986 cites W2014469165 @default.
• W1976832986 cites W2016021454 @default.
• W1976832986 cites W2018764412 @default.
• W1976832986 cites W2019067036 @default.
• W1976832986 cites W2019525170 @default.
• W1976832986 cites W2020839188 @default.
• W1976832986 cites W2021656154 @default.
• W1976832986 cites W2021674095 @default.
• W1976832986 cites W2023025627 @default.
• W1976832986 cites W2026659004 @default.
• W1976832986 cites W2027066480 @default.
• W1976832986 cites W2027360988 @default.
• W1976832986 cites W2028332147 @default.
• W1976832986 cites W2030729694 @default.
• W1976832986 cites W2030960203 @default.
• W1976832986 cites W2032222267 @default.
• W1976832986 cites W2033360275 @default.
• W1976832986 cites W2034569928 @default.
• W1976832986 cites W2038502254 @default.
• W1976832986 cites W2040541933 @default.
• W1976832986 cites W2040730922 @default.
• W1976832986 cites W2043394051 @default.
• W1976832986 cites W2045819913 @default.
• W1976832986 cites W2046388121 @default.
• W1976832986 cites W2046703219 @default.
• W1976832986 cites W2048890665 @default.
• W1976832986 cites W2051583201 @default.
• W1976832986 cites W2052071194 @default.

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