References
- MacDonaldIMSeredaCMcTaggartKMahDChoroideremia gene testingExpert Rev Mol Diagn2004447848415225095
- MacDonaldIMMahDYHoYKLewisRASeabraMCA practical diagnostic test for choroideremiaOphthalmology1998105163716409754170
- KarnaJChoroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriersActa Ophthalmol Suppl19861761683014804
- CoussaRGKimJTraboulsiEIChoroideremia: effect of age on visual acuity in patients and female carriersOphthalmic Genet201233667322060191
- LyonMFGene action in the X-chromosome of the mouse (Mus musculus L.)Nature196119037237313764598
- GodleyBFTiffinPAEvansKKelsellREHuntDMBirdACClinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6qOphthalmology19961038938988643244
- BowneSJHumphriesMMSullivanLSA dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementEur J Hum Genet2011191074108121654732
- KmochSMajewskiJRamamurthyVMutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessNat Commun20156561425574898
- McCullochJCThe pathologic findings in two cases of choroideremiaTrans Am Acad Ophthalmol Otolaryngol19505456557215424921
- RafuseEVMcCullochCChoroideremia. A pathological reportCan J Ophthalmol196833473525727760
- MacDonaldIMRussellLChanCCChoroideremia: new findings from ocular pathology and review of recent literatureSurv Ophthalmol20095440140719422966
- RodriguesMMBallintineEJWiggertBNLeeLFletcherRTChaderGJChoroideremia: a clinical, electron microscopic, and biochemical reportOphthalmology1984918738836089068
- JolySFranckeMUlbrichtECooperative phagocytes: resident microglia and bone marrow immigrants remove dead photoreceptors in retinal lesionsAm J Pathol20091742310232319435787
- SawaMTamakiYKlancnikJMJrYannuzziLAIntraretinal foveal neovascularization in choroideremiaRetina20062658558816770269
- GeneadMAFishmanGACystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examinationEye (Lond)201125849020966974
- CameronJDFineBSShapiroIHistopathologic observations in choroideremia with emphasis on vascular changes of the uveal tractOphthalmology1987941871963574884
- GoldbergNRGreenbergJPLaudKTsangSFreundKBOuter retinal tubulation in degenerative retinal disordersRetina2013331871187623676993
- ZinkernagelMSGroppeMMacLarenREMacular hole surgery in patients with end-stage choroideremiaOphthalmology20131201592159623562166
- ShinodaHKotoTFujikiKMurakamiATsubotaKOzawaYClinical findings in a choroideremia patient who underwent vitrectomy for retinal detachment associated with macular holeJpn J Ophthalmol20115516917121400066
- PreisingMNWegscheiderEFriedburgCPoloschekCMWabbelsBKLorenzBFundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical dataOphthalmology200911612011209.e1–e219376587
- EdwardsTLGroppeMJollyJKDownesSMMacLarenRECorrelation of retinal structure and function in choroideremia carriersOphthalmology20151221274127625682176
- FlanneryJGBirdACFarberDBWeleberRGBokDA histopatho-logic study of a choroideremia carrierInvest Ophthalmol Vis Sci1990312292362303326
- JacobsonSGCideciyanAVSumarokaARemodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutationsInvest Ophthalmol Vis Sci2006474113412016936131
- SyedNSmithJEJohnSKSeabraMCAguirreGDMilamAHEvaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremiaOphthalmology200110871172011297488
- SyedRSundquistSMRatnamKHigh-resolution images of retinal structure in patients with choroideremiaInvest Ophthalmol Vis Sci20135495096123299470
- JiaYBaileySTHwangTSQuantitative optical coherence tomography angiography of vascular abnormalities in the living human eyeProc Natl Acad Sci U S A2015112E2395E240225897021
- DysliCDysliMEnzmannVWolfSZinkernagelMSFluorescence lifetime imaging of the ocular fundus in miceInvest Ophthalmol Vis Sci2014557206721525249601
- DysliCQuellecGAbeggMQuantitative analysis of fluorescence lifetime measurements of the macula using the fluorescence lifetime imaging ophthalmoscope in healthy subjectsInvest Ophthalmol Vis Sci2014552106211324569585
- CremersFPSankilaEMBrunsmannFDeletions in patients with classical choroideremia vary in size from 45 kb to several megabasesAm J Hum Genet1990476226282220804
- van de PolTJCremersFPBrohetRMWieringaBRopersHHDerivation of clones from the choroideremia locus by preparative field inversion gel electrophoresisNucleic Acids Res1990187257311969148
- BeaufrereLTufferySHamelCThe protein truncation test (PTT) as a method of detection for choroideremia mutationsExp Eye Res1997658498549441709
- PascalODonnellyPFouanonCHerbertOLe RouxMGMoisanJPA new (old) deletion in the choroideremia geneHum Mol Genet1993214898242078
- SankilaEMTolvanenRvan den HurkJACremersFPde la ChapelleAAberrant splicing of the CHM gene is a significant cause of choroideremiaNat Genet199211091131302003
- SchwartzMRosenbergTvan den HurkJAvan de PolDJCremersFPIdentification of mutations in Danish choroideremia familiesHum Mutat1993243478477262
- van BokhovenHSchwartzMAndreassonSMutation spectrum in the CHM gene of Danish and Swedish choroideremia patientsHum Mol Genet19943104710517981671
- NesslingerNMitchellGStrasbergPMacDonaldIMMutation analysis in Canadian families with choroideremiaOphthalmic Genet19961747528832720
- ForsythePMaguireAFujitaRMoenCSwaroopABennettJA carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555 – > stop) in the CHM gene leads to choroideremiaExp Eye Res1997644874909196401
- FujikiKHottaYHayakawaMREP-1 gene mutations in Japanese patients with choroideremiaGraefes Arch Clin Exp Ophthalmol199923773574010447648
- ZhouQLiuLXuFGenetic and phenotypic characteristics of three Mainland Chinese families with choroideremiaMol Vis20121830931622355242
- Pereira-LealJBHumeANSeabraMCPrenylation of Rab GTPases: molecular mechanisms and involvement in genetic diseaseFEBS Lett200149819720011412856
- PylypenkoORakAReentsRStructure of rab escort protein-1 in complex with rab geranylgeranyltransferaseMol Cell20031148349412620235
- Pereira-LealJBSeabraMCThe mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamilyJ Mol Biol20003011077108710966806
- CremersFPArmstrongSASeabraMCBrownMSGoldsteinJLREP-2, a Rab escort protein encoded by the choroideremia-like geneJ Biol Chem1994269211121178294464
- TolmachovaTAndersRAbrinkMIndependent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremiaJ Clin Invest200611638639416410831
- LarijaniBHumeANTarafderAKSeabraMCMultiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseasesJ Biol Chem2003278467984680412941939
- AclandGMAguirreGDBennettJLong-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindnessMol Ther2005121072108216226919
- BennettJMaguireAMCideciyanAVStable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retinaProc Natl Acad Sci U S A1999969920992510449795
- MaguireAMHighKAAuricchioAAge-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trialLancet20093741597160519854499
- JacobsonSGCideciyanAVRatnakaramRGene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsArch Ophthalmol201213092421911650
- HauswirthWWAlemanTSKaushalSTreatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialHum Gene Ther20081997999018774912
- BainbridgeJWMehatMSSundaramVLong-term effect of gene therapy on leber’s congenital amaurosisN Engl J Med2015372201887189725938638
- WuZYangHColosiPEffect of genome size on AAV vector packagingMol Ther201018808619904234
- TolmachovaTWavre-ShaptonSTBarnardARMacLarenREFutterCESeabraMCRetinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremiaInvest Ophthalmol Vis Sci2010514913492020445111
- TolmachovaTTolmachovOEBarnardARFunctional expression of rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivoJ Mol Med (Berl)20139182583723756766
- MacLarenREGroppeMBarnardARRetinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trialLancet20143831129113724439297