摘要
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.
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.
出处
《世界核心医学期刊文摘（眼科学分册）》
2005年第1期59-60,共2页
Digest of the World Core Medical Journals:Ophthalmology
