2019
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Mäkeläinen S, Gòdia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfström K, Hallböök F, Ekesten B, Andersson G, Bergström TF. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLOS Genetics 2019, 15: e1007873. PMID: 30889179, PMCID: PMC6424408, DOI: 10.1371/journal.pgen.1007873.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsATP Binding Cassette Transporter, Subfamily A, Member 4ATP-Binding Cassette TransportersBase SequenceCodon, NonsenseDisease Models, AnimalDog DiseasesDogsFemaleGenes, RecessiveHomozygoteHumansLipofuscinMacular DegenerationMaleMicroscopy, FluorescenceModels, MolecularMutagenesis, InsertionalMutationPedigreeProtein ConformationRetinaStargardt DiseaseWhole Genome SequencingConceptsRetinal pigment epitheliumStargardt diseaseAutosomal recessive retinal degenerative diseaseRetinal degenerationABCA4 geneVisual impairmentCentral visual impairmentFull-length ABCA4 proteinFunction mutationsLabrador Retriever dogsLarge animal modelRetinal degenerative diseasesAutosomal recessive retinal degenerationMember 4 geneRecessive retinal degenerationStandard treatmentClinical trialsClinical signsLipofuscin depositsPigment epitheliumAnimal modelsCanine modelUnaffected dogsAffected dogsCone photoreceptors
2017
Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs
Ye GJ, Komáromy AM, Zeiss C, Calcedo R, Harman CD, Koehl KL, Stewart GA, Iwabe S, Chiodo VA, Hauswirth WW, Aguirre GD, Chulay JD. Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs. Human Gene Therapy 2017, 28: 197-207. PMID: 29020838, PMCID: PMC5733651, DOI: 10.1089/humc.2017.125.Peer-Reviewed Original ResearchConceptsHuman CNGB3Immune responseHigh dosesT cell immune responsesHigh-dose groupLow-dose groupInherited retinal disorderImmune-mediated toxicitiesHigher vector doseCone photoreceptor functionDifferent dose levelsFocal chorioretinitisRetinal toxicityVisual acuityInflammatory responseAAV vectorsRetinal disordersSubretinal injectionCone functionDose levelsCone photoreceptorsPhotoreceptor functionCNGB3AAV5 vectorVector dose
2011
A slowly progressive retinopathy in the Shetland Sheepdog
Karlstam L, Hertil E, Zeiss C, Ropstad EO, Bjerkås E, Dubielzig RR, Ekesten B. A slowly progressive retinopathy in the Shetland Sheepdog. Veterinary Ophthalmology 2011, 14: 227-238. PMID: 21733063, DOI: 10.1111/j.1463-5224.2010.00866.x.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCase-Control StudiesDog DiseasesDogsFemaleGenetic Predisposition to DiseaseMaleRetinal DiseasesConceptsB-wave amplitudeRod-cone degenerationOphthalmoscopic signsProgressive retinopathyProgressive retinal atrophyShetland SheepdogsTapetal fundusOphthalmoscopic changesRetinal atrophyProgressive rod-cone degenerationSlit-lamp biomicroscopyOuter nuclear layerOphthalmoscopic findingsOphthalmic examinationNuclear layerNormal dogsCone outer segmentsGreyish discolorationRepeated examinationsAbnormal appearanceVisual impairmentRetinopathyDogsMicroscopic examinationForty adults
2009
CREB1/ATF1 Activation in Photoreceptor Degeneration and Protection
Beltran WA, Allore HG, Johnson E, Towle V, Tao W, Acland GM, Aguirre GD, Zeiss CJ. CREB1/ATF1 Activation in Photoreceptor Degeneration and Protection. Investigative Ophthalmology & Visual Science 2009, 50: 5355-5363. PMID: 19643965, PMCID: PMC3172238, DOI: 10.1167/iovs.09-3741.Peer-Reviewed Original ResearchMeSH KeywordsActivating Transcription Factor 1AgedAged, 80 and overAnimalsArrestinCell CountCiliary Neurotrophic FactorCyclic AMP Response Element-Binding ProteinDog DiseasesDogsFemaleGenotypeHumansImmunoblottingImmunoenzyme TechniquesMacular DegenerationMalePhosphorylationPhotoreceptor Cells, VertebrateRetinitis PigmentosaRhodopsinConceptsAge-related macular degenerationCiliary neurotrophic factorNormal canine retinaRcd1 dogsCanine retinaHuman retinaInnate protective responseNeuroprotective stimulusInner retinaNeurotrophic factorTranscription factor 1Macular degenerationRetinal protectionPhotoreceptor protectionP-CREB1Photoreceptor diseaseNormal dogsCanine modelPhotoreceptor degenerationRetinal degenerationProtective responseStrong immunolabelingCone photoreceptorsPhotoreceptor nucleiRetina
2004
A morphologic study of intravitreal membranes associated with intraocular hemorrhage in the dog
Zeiss CJ, Dubielzig RR. A morphologic study of intravitreal membranes associated with intraocular hemorrhage in the dog. Veterinary Ophthalmology 2004, 7: 239-243. PMID: 15200620, DOI: 10.1111/j.1463-5224.2004.04033.x.Peer-Reviewed Original ResearchConceptsGlial fibrillary acidic proteinSmooth muscle actinRetinal neovascularizationIntravitreal hemorrhageMuscle actinFactor VIII-related antigenIntravitreal membranesAdditional common findingsOptic disc cuppingVIII-related antigenFibrillary acidic proteinDisc cuppingIntraocular hemorrhageFibrovascular membranesCommon findingEpiretinal membraneGlial originHemorrhageImmunohistochemical proceduresSpringer spanielAcidic proteinLabrador RetrieversStandard histologyMorphologic studiesDogs