Research Topics
Genomes and GenesSpecies | Paulus T V M De JongSummaryAffiliation: Netherlands Institute of Ecology Country: The Netherlands Publications
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Publications
Age-related macular degenerationPaulus T V M De Jong
Department of Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
N Engl J Med 355:1474-85. 2006
Associations between aspirin use and aging macula disorder: the European Eye StudyPaulus T V M De Jong
The Netherlands Institute for Neuroscience and Academic Medical Center, Amsterdam, The Netherlands
Ophthalmology 119:112-8. 2012..To study associations between aspirin use and early and late aging macula disorder (AMD)...
Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degenerationDominique C Baas
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience NIN, Royal Netherlands Academy of Arts and Sciences KNAW, Amsterdam, The Netherlands
Mol Vis 18:657-74. 2012..SLC2A1 regulates the bioavailability of glucose in the retinal pigment epithelium (RPE), which might influence oxidative stress-mediated AMD pathology...
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophyJudith C Booij
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Ophthalmology 117:1415-22. 2010..To describe the disease course in patients with vitelliform macular dystrophy (VMD) with a Best1 mutation and to determine the association between Best1 genotype and visual prognosis...
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6Astrid S Plomp
Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam
Genet Med 11:852-8. 2009..The purpose of this study was to check variability in expression within one genotype and look for pseudoxanthoma elasticum signs in heterozygotes...
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findingsAstrid S Plomp
Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam, The Netherlands
Am J Med Genet A 152:1049-58. 2010..We put this proposed classification forward to encourage further debate on the diagnosis of this multi-organ disorder...
Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membraneSimone S van Soest
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences KNAW, Meibergdreef, Amsterdam, The Netherlands
Mol Vis 13:1608-17. 2007..To describe gene expression differences between healthy, young human retinal pigment epithelium (RPE) cells from the macular area and RPE cells from two locations in the retinal periphery...
The complement component 5 gene and age-related macular degenerationDominique C Baas
Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences KNAW, Amsterdam, The Netherlands
Ophthalmology 117:500-11. 2010..To investigate the association between variants in the complement component 5 (C5) gene and age-related macular degeneration (AMD)...
Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degenerationDominiek D G Despriet
Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences KNAW, Amsterdam, The Netherlands
Invest Ophthalmol Vis Sci 49:364-71. 2008..To determine whether variants in the candidate genes TLR4, CCL2, and CCR2 are associated with age-related macular degeneration (AMD)...
Blood pressure, arterial stiffness, and open-angle glaucoma: the Rotterdam studyCaroline A A Hulsman
The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, and Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands
Arch Ophthalmol 125:805-12. 2007..To investigate cross-sectional associations among blood pressures (BPs), arterial stiffness, and open-angle glaucoma (OAG)...
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel onesAstrid S Plomp
Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Mol Vis 14:118-24. 2008..Up to now, the literature reports that there are 180 different ABCC6 mutations in PXE. The purpose of this paper is to report eight novel mutations in ABCC6 and to update the spectrum and frequency of ABCC6 mutations in PXE patients...
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticumTheo G M F Gorgels
Department of Molecualr and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute NORI, Amsterdam, The Netherlands
Hum Mol Genet 14:1763-73. 2005..Our data support the hypothesis that PXE is in fact a systemic disease...
Risk profiles for ageing macular diseasePaulus T V M De Jong
Department of Ophthalmogenetics, Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
Ophthalmologica 218:5-16; discussion 39-41. 2004
Risk factors for incident age-related macular degeneration: pooled findings from 3 continentsSandra C Tomany
Department of Ophthalmology, University of Wisconsin, Madison, Wisconsin 53726, USA
Ophthalmology 111:1280-7. 2004..The relationships found in this study between total serum cholesterol and incident geographic atrophy and neovascular AMD are not readily explained...
Late-onset retinoblastoma in a well-functioning fellow eyePaulus T V M De Jong
Netherlands Institute for Neurosciences, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Ophthalmology 113:1040-4. 2006..153211T>A (p.Tyr606X) mutation in the retinoblastoma 1 gene, whose left eye was enucleated at age 2 years for 2 retinoblastomas...
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam StudyIsabella Kardys
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
J Am Coll Cardiol 47:1568-75. 2006..This study was designed to investigate the association between a common polymorphism (Tyr402His, rs1061170) in the complement factor H (CFH) gene and risk of coronary heart disease...
Cataract surgery and the risk of aging macula disorder: the rotterdam studyLintje Ho
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Invest Ophthalmol Vis Sci 49:4795-800. 2008..To investigate still-controversial associations between prior cataract surgery and aging macula disorder (AMD) in a general population...
Sunlight exposure, antioxidants, and age-related macular degenerationAstrid E Fletcher
Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, Keppel Street, London, England
Arch Ophthalmol 126:1396-403. 2008..To examine the association of sunlight exposure and antioxidant level with age-related macular degeneration (AMD)...
The risk and natural course of age-related maculopathy: follow-up at 6 1/2 years in the Rotterdam studyRedmer van Leeuwen
Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
Arch Ophthalmol 121:519-26. 2003..The progression of ARM stages follows, after the appearance of the first soft drusen, a distinct course at a gradual pace that accelerates with increasing age...
ABCC6 and pseudoxanthoma elasticumArthur A B Bergen
Department of Clinical and Molecular Ophthalmogenetics, Amsterdam, The Netherlands
Pflugers Arch 453:685-91. 2007..2005) 14:1763-1773; Klement et al. (2005) 25:8299-8310], which may be useful to elucidate the precise function of Abcc6 and to develop experimental therapies...
Epidemiology of neurological diseases in elderly people: what did we learn from the Rotterdam Study?Albert Hofman
Department of Epidemiology Biostatistics, Erasmus Medical Centre, Rotterdam, Netherlands
Lancet Neurol 5:545-50. 2006..Perhaps the most important message from the Rotterdam Study is the great potential for prevention or postponement of neurological diseases in elderly people. The time for preventive nihilism is over...
Complement factor H polymorphism, complement activators, and risk of age-related macular degenerationDominiek D G Despriet
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
JAMA 296:301-9. 2006..Recent case-control studies demonstrated an association between the complement factor H (CFH) gene, a regulator of complement, and AMD...
Prevalence of age-related maculopathy in older Europeans: the European Eye Study (EUREYE)Cristina A Augood
Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, England
Arch Ophthalmol 124:529-35. 2006..9%). The prevalence of bilateral AMD was 1.4% (95% CI, 1.0%-1.8%). CONCLUSION: Age-specific prevalences of age-related maculopathy in the European Eye Study (EUREYE) are similar to other population-based studies in Western populations...
Estrogen receptor alpha gene polymorphisms associated with incident aging macula disorderSharmila S Boekhoorn
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Invest Ophthalmol Vis Sci 48:1012-7. 2007..This study was undertaken to investigate whether genetic variations in the estrogen receptor alpha (ESR1) gene are associated with incident AMD...
Systemic antihypertensive medication and incident open-angle glaucomaRogier P H M Müskens
Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
Ophthalmology 114:2221-6. 2007..To determine the association between systemic antihypertensive medication and incident open-angle glaucoma...
Complement factor h polymorphism, inflammatory mediators, and retinal vessel diameters: the rotterdam studyFrank Jan de Jong
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Invest Ophthalmol Vis Sci 48:3014-8. 2007..Possible effect modification by smoking and inflammatory markers was examined...
C-reactive protein level and risk of aging macula disorder: The Rotterdam StudySharmila S Boekhoorn
Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
Arch Ophthalmol 125:1396-401. 2007..To examine whether C-reactive protein (CRP) level is a risk factor for aging macula disorder (AMD) in a general population...
Retinal vascular lesions in patients of Caucasian and Asian origin with type 2 diabetes: baseline results from the ADVANCE Retinal Measurements (AdRem) studyRonald P Stolk
Department of Epidemiology, University Medical Center Groningen, P O Box 30 001, 9700RB Groningen, The Netherlands
Diabetes Care 31:708-13. 2008....
Alcohol consumption and risk of aging macula disorder in a general population: the Rotterdam StudySharmila S Boekhoorn
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Arch Ophthalmol 126:834-9. 2008..To investigate the possible relationship between overall or specific alcohol consumption and risk of aging macula disorder (AMD), a synonym for age-related macular degeneration, in a general population...
Is there a direct association between age-related eye diseases and mortality? The Rotterdam StudyPetra H Borger
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Ophthalmology 110:1292-6. 2003..To study mortality in subjects with age-related maculopathy (ARM), cataract, or open-angle glaucoma (OAG) in comparison with those without these disorders...
Oily fish consumption, dietary docosahexaenoic acid and eicosapentaenoic acid intakes, and associations with neovascular age-related macular degenerationCristina Augood
Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, United Kingdom
Am J Clin Nutr 88:398-406. 2008..Fish intake, the major source of docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA), may reduce the risk of age-related macular degeneration (AMD)...
Retinal vessel diameters and risk of impaired fasting glucose or diabetes: the Rotterdam studyM Kamran Ikram
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Diabetes 55:506-10. 2006..In conclusion, in our study, the risk of impaired fasting glucose and diabetes with AVR was explained by venular dilatation rather than arteriolar narrowing, warranting more focus on the causes of this dilatation...
Dietary intake of antioxidants and risk of age-related macular degenerationRedmer van Leeuwen
Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands
JAMA 294:3101-7. 2005..Exclusion of supplement users did not affect the results. CONCLUSION: In this study, a high dietary intake of beta carotene, vitamins C and E, and zinc was associated with a substantially reduced risk of AMD in elderly persons...
The standard gamble between cataract extraction and AMDPaulus T V M De Jong
Graefes Arch Clin Exp Ophthalmol 242:103-5. 2004
Epidemiology of age-related maculopathy: a reviewRedmer van Leeuwen
Department of Epidemiology and Biostatistics, Erasmus Medical Centre, Rotterdam, The Netherlands
Eur J Epidemiol 18:845-54. 2003..Future studies, both observational and experimental, will hopefully identify more risk factors that are amenable to prevention...
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS geneJanneke J C van Lith-Verhoeven
Department of Ophthalmology, University Medical Center Nijmegen, The Netherlands
Arch Ophthalmol 121:1452-7. 2003..To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits...
Relationship between refraction and prevalent as well as incident age-related maculopathy: the Rotterdam StudyM Kamran Ikram
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Invest Ophthalmol Vis Sci 44:3778-82. 2003..CONCLUSIONS: These population-based incidence data confirm results from prevalence and case-control studies that there is an association between hyperopia and ARM...
Blood pressure, atherosclerosis, and the incidence of age-related maculopathy: the Rotterdam StudyRedmer van Leeuwen
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Invest Ophthalmol Vis Sci 44:3771-7. 2003..32 (95% CI: 1.00-1.75). A weak association was found between aortic calcifications and the risk of ARM. CONCLUSIONS: Elevated systolic blood or pulse pressure or the presence of atherosclerosis may increase the risk of development of ARM...
Grading of age-related maculopathy for epidemiological studies: is digital imaging as good as 35-mm film?Redmer van Leeuwen
Department of Epidemiology and Biostatistics, and EUREYE Grading Center, Erasmus Medical Center, Rotterdam, The Netherlands
Ophthalmology 110:1540-4. 2003..To compare stereo digital images with stereo 35-mm color transparencies as to the quality and reliability of grading age-related maculopathy (ARM) in the context of a multicenter European epidemiologic study (the EUREYE Study)...
Pseudoxanthoma elasticum: a clinical, histopathological, and molecular updateXiaofeng Hu
Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
Surv Ophthalmol 48:424-38. 2003..One of these sites is Bruch's membrane. This review is an update on etiology of pseudoxanthoma elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis...
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticumXiaofeng Hu
Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Art and Sciences KNAW, Amsterdam, The Netherlands
Invest Ophthalmol Vis Sci 44:1824-9. 2003..To characterize the ABCC6 R1141X nonsense mutation, which is implicated in more than 25% of a cohort of patients from The Netherlands with pseudoxanthoma elasticum (PXE)...
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticumXiaofeng Hu
Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
Eur J Hum Genet 11:215-24. 2003..The consequences of our data for the molecular pathology of PXE are discussed...
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathySilke Schmidt
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC, USA
Ophthalmic Genet 23:209-23. 2002..They also suggest that the effect of the APOE-2 allele may vary by gender, and that APOE-2 may confer an increased risk only to males...
Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam StudyCaroline A A Hulsman
Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
Graefes Arch Clin Exp Ophthalmol 240:468-74. 2002..Instead of submitting all members of a family with the Asn480Lys mutation to frequent follow-up, medical care can be restricted to those carrying the mutation...
Cholesterol and age-related macular degeneration: is there a link?Redmer van Leeuwen
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Am J Ophthalmol 137:750-2. 2004..To examine the relation among serum cholesterol, apolipoprotein E genotype (APOE), and the risk of early and late age-related macular degeneration (AMD)...
Prevalence of age-related macular degeneration in the United StatesDavid S Friedman
Wilmer Eye Institute, Wilmer 120, 600 N Wolfe Street, Baltimore, MD 21287, USA
Arch Ophthalmol 122:564-72. 2004..To estimate the prevalence and distribution of age-related macular degeneration (AMD) in the United States by age, race/ethnicity, and gender...
Retinal vessel diameters and risk of hypertension: the Rotterdam StudyM Kamran Ikram
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Hypertension 47:189-94. 2006..quot; Within these strata, arteriolar narrowing was still related to incident hypertension. These data show that both retinal arteriolar and venular narrowing may precede the development of systemic hypertension...
Retinal vessel diameters and cerebral small vessel disease: the Rotterdam Scan StudyM Kamran Ikram
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Brain 129:182-8. 2006..The mechanisms underlying venular dilatation deserve more attention, as they may provide new clues into the pathophysiology of cerebral small vessel disease...
Submacular Surgery TrialsPaulus T V M De Jong
Ophthalmology 112:2055. 2005
Reduced melanoma-related mortality in uveal melanoma by preenucleation radiotherapyEmine Kilic
Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands
Arch Ophthalmol 123:1363-7. 2005..5% and 25.2%, respectively. In both groups, women had a better prognostic outcome than men. CONCLUSION: This study suggests that PER improves long-term survival in patients with uveal melanoma...
Incidence of open-angle glaucoma in a general elderly population: the Rotterdam StudySimone de Voogd
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Ophthalmology 112:1487-93. 2005..Only 37% of the incident cases received treatment for OAG at the time of the reexamination. CONCLUSIONS: The incidence of OAG rose significantly with age. Most of the patients with incident OAG were unaware of having OAG...
Retinal vessel diameters and the risk of incident age-related macular disease: the Rotterdam StudyM Kamran Ikram
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Ophthalmology 112:548-52. 2005..24 (95% CI, 0.94-1.63). CONCLUSION: Overall retinal vessel diameters were not related to the risk of iAMD in this general elderly population...
Heterogeneity of the genetic risk in age-related macular disease: a population-based familial risk studyJacqueline J M Assink
Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
Ophthalmology 112:482-7. 2005..The family score method is relevant for genetic counseling as well as for implementation in studies of genetic dissection of AMD...
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticumXiaofeng Hu
Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
Genet Test 8:292-300. 2004..7%) out of 89 mutant alleles could be detected within a week. We conclude that this strategy leads to both reliable and time-saving screening for mutations in the ABCC6 gene in sporadic cases and in families with PXE...
Causes of incident visual field loss in a general elderly population: the Rotterdam studyElisa Skenduli-Bala
Department of Epidemiology and Biostatistics, Erasmus University Medical Center, Rotterdam, The Netherlands
Arch Ophthalmol 123:233-8. 2005..After glaucoma, stroke was the second most common cause of iVFL in persons younger than 75 years, followed by age-related macular degeneration and retinal vascular occlusive disease...
Is medication use associated with the incidence of early age-related maculopathy? Pooled findings from 3 continentsRedmer van Leeuwen
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
Ophthalmology 111:1169-75. 2004..To investigate whether there is an association between the use of medication and the incidence of early age-related maculopathy (ARM)...
Does autosomal dominant pseudoxanthoma elasticum exist?Astrid S Plomp
The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
Am J Med Genet A 126:403-12. 2004..AD inheritance in PXE may exist, but is both after careful literature study and in our patient material much rarer than previously thought...
Macular pigment and melanin in age-related maculopathy in a general populationTos T J M Berendschot
Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands
Invest Ophthalmol Vis Sci 43:1928-32. 2002..To check this, MP and melanin optical density were measured in a random population-based sample of subjects 55 years of age or older...
