RPGR突变相关性X连锁隐性视网膜色素变性携带者的眼底自发荧光检查,及其与电生理和心理生理测定值的相关性

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.

RPE65基因突变相关的早发性、重症视网膜营养不良患者自儿童期始眼底缺乏488nm自体荧光

Purpose Fundus autofluorescence is due to accumulation of lipofuscin in the retinal pigment ep ithelium(RPE)resulting from incomplete digestion of N-retinylidene-phosphatidyl-ethanolamine from shed photorecep tor outer segment discs.Alteration in autofluorescence reflects changes in lipofuscin content of the RPE.Mutations on both alleles of RPE65result in absent or largely decrease d formation of rhodopsin,due to a defect in alltrans retinol is omerization in the RPE.Autofluorescence could therefore b e altered.This study was conducted to evaluate fundus autofl uorescence in patients with early-onset severe retinal dystrophy(EOSRD,or ear-ly-onset rod-cone dystrophy)associated with mutations on both alleles of RPE65.Design Case se ries.Participants and controls Ten 10-to 55-year-old p atients with EOSRD and compound heterozygous or homozy gous mutations in RPE65.For comparison,6heterozygous parents and 2patients with other forms of EOSRD we re examined.Methods Participants underwent,in addition to standard clinical and electrophysiological examination,autofluores-cence imaging using a confocal scanning laser ophthalmo-scope.Three of the patients were als o examined by optical coherence tomography(OCT)to evaluate the status of retinal degeneration.Mutations in7patients have been reported previously;the other pati ents were investigated by polymerase chain reaction-single-strand conformation poly-morphism and direct sequencing for mutations in RPE65and lecithin retinol acyltransfera se(LRAT).Main outcome measures Fundus autofluorescence a nd OCT.Results Ab-sent or minimal autofluorescence wa s found in all patients with compound heterozygous or homozygous RPE65muta-tions.Autofluorescence was normal in the heterozygous parents.Autofluorescence was present in 2children with EOSRD not associated with mutations in RPE65or LRAT,another gene involved in retinol recycling.Optical coher-ence tomography in younger patients revealed an intraretinal appearance similar to that of their h ealthy,heterozygous parents.Conclusions Lack of autofl uorescence in patients with EOSRD associated with mutation s in RPE65is in ac-cordance with the biochemical defect and can be used as a clinical marker of this genotype.Optical coherence tomog-raphy results in younger patients wo uld indicate still viable photoreceptors despite the absence of autofluorescence.