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
2005
Complement Factor H Polymorphism in Age-Related Macular Degeneration
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005, 308: 385-389. PMID: 15761122, PMCID: PMC1512523, DOI: 10.1126/science.1109557.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAllelesAmino Acid SubstitutionCase-Control StudiesChoroidChromosomes, Human, Pair 1Complement Factor HComplement Membrane Attack ComplexExonsFemaleGenetic MarkersGenetic Predisposition to DiseaseGenotypeHaplotypesHistidineHumansImmunity, InnateIntronsLinkage DisequilibriumMacular DegenerationMaleOligonucleotide Array Sequence AnalysisPigment Epithelium of EyePolymorphism, GeneticPolymorphism, Single NucleotideRisk FactorsSmokingConceptsAge-related macular degenerationComplement factor H (CFH) geneMacular degenerationLikelihood of AMDComplement Factor H PolymorphismRisk allelesC-reactive proteinFactor H geneAmino acids 402H polymorphismCFH geneFamily-based studyMajor causeSingle nucleotide polymorphismsCommon variantsDegenerationPolymorphismH gene