0000000000248803

AUTHOR

Anneke I. Den Hollander

showing 2 related works from this author

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

2007

Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photore…

MaleCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresMolecular Sequence DataOptic Atrophy Hereditary LeberNeuroinformatics [DCN 3]Biologymedicine.disease_causeCiliopathiesJoubert syndromeCell LineFrameshift mutationGenomic disorders and inherited multi-system disorders [IGMD 3]MiceTranslational research [ONCOL 3]Chlorocebus aethiopsPerception and Action [DCN 1]GeneticsmedicineNeurosensory disorders [UMCN 3.3]AnimalsHumansCiliaRats WistarEye ProteinsFrameshift MutationRenal disorder [IGMD 9]GeneticsMutationCiliumDisease gene identificationmedicine.diseasePhenotypeeye diseasesPedigreeRatsMice Inbred C57BLGenetic defects of metabolism [UMCN 5.1]Codon NonsenseCOS CellsFemalesense organsFunctional Neurogenomics [DCN 2]Microtubule-Associated ProteinsNature Genetics
researchProduct

Prevalence of Age-Related Macular Degeneration in Europe

2017

Manuscript no. 2016-1147 Supplemental material is available at www.aaojournal.org/; International audience; [u]Purpose:[/u] Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. [u]Design:[/u] Meta-analysis of prevalence data. [u]Participants:[/u] A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohor…

0301 basic medicinemedicine.medical_specialtyVisual acuityOPTICAL COHERENCE TOMOGRAPHYMACULOPATHYgenetic structuresPopulationPrevalenceHEART-DISEASEchoroidal neovascularizationSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciencesRotterdam Study0302 clinical medicineAll institutes and research themes of the Radboud University Medical CenterBEAVER DAM EYEEpidemiologygeographic atrophymedicineVISUAL IMPAIRMENT[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrganseducationPOPULATIONeducation.field_of_studyBIRTH COHORTbusiness.industryMacular degenerationmedicine.diseaseTRENDSConfidence intervaleye diseases3. Good healthEuropean Prospective Investigation into Cancer and NutritionOphthalmology030104 developmental biologyAge-related Macular DegenerationENDOTHELIAL GROWTH-FACTORBLINDNESS030221 ophthalmology & optometryOptometryAge-related Macular Degeneration choroidal neovascularization geographic atrophysense organsmedicine.symptombusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyDemography
researchProduct