Purpose:To describe fundus autoflu orescence(AF)in carriers of X-linked retinitis pigm entosa(XLRP)associ-ated with mutations in RPGR(RP3),and to compare the findings on AF with ophthalmoscopy and with elec-trophysiol...Purpose:To describe fundus autoflu orescence(AF)in carriers of X-linked retinitis pigm entosa(XLRP)associ-ated with mutations in RPGR(RP3),and to compare the findings on AF with ophthalmoscopy and with elec-trophysiological and psychophysic al data.Methods:Eleven carriers from two families wi th XLRP and muta-tions in RPGR underwent clinical exa mination including fundus photography,AF,fullfield e lectroretinography,Goldmann kinetic perimetry and two-colour threshold perimetry(2CT perimetry).Results:An abnormal AF pattern was found in 9of 11carriers,with a radial pattern in 6of 11.In 2CT perimetry patchy rod and cone sensitivity losses were seen in7of 8carriers.Rods tended to be more affected than cones.The areas of sensitivity loss showed some correspondence with the ab-normalities seen on AF.Conclusion:AF had a specific pattern in 9of 11carriers from two fa milies with muta-tions in RPGR.The result was indepen dent of the family investigated.The radial pattern ma y be explained by random X-inactivation early during embryogenesis subse-quently preserved in all daughter ce lls and the centrifugal radial growth pattern of the develop ing neuroretina.AF may prove to be a rapid and easy clinic al test to identify carriers of RP3.展开更多
文摘Purpose:To describe fundus autoflu orescence(AF)in carriers of X-linked retinitis pigm entosa(XLRP)associ-ated with mutations in RPGR(RP3),and to compare the findings on AF with ophthalmoscopy and with elec-trophysiological and psychophysic al data.Methods:Eleven carriers from two families wi th XLRP and muta-tions in RPGR underwent clinical exa mination including fundus photography,AF,fullfield e lectroretinography,Goldmann kinetic perimetry and two-colour threshold perimetry(2CT perimetry).Results:An abnormal AF pattern was found in 9of 11carriers,with a radial pattern in 6of 11.In 2CT perimetry patchy rod and cone sensitivity losses were seen in7of 8carriers.Rods tended to be more affected than cones.The areas of sensitivity loss showed some correspondence with the ab-normalities seen on AF.Conclusion:AF had a specific pattern in 9of 11carriers from two fa milies with muta-tions in RPGR.The result was indepen dent of the family investigated.The radial pattern ma y be explained by random X-inactivation early during embryogenesis subse-quently preserved in all daughter ce lls and the centrifugal radial growth pattern of the develop ing neuroretina.AF may prove to be a rapid and easy clinic al test to identify carriers of RP3.
