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
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 ResearchConceptsB-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