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List of works by Carel B Hoyng

A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo

scientific article published on 31 May 2016

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

scientific article published on 29 September 2015

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

scientific article (publication date: 15 November 2014)

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

scientific article

ARE INTRAVITREAL INJECTIONS WITH ULTRATHIN 33-G NEEDLES LESS PAINFUL THAN THE COMMONLY USED 30-G NEEDLES?

scientific article published on 20 April 2015

Aberrant leukocyte telomere length in Birdshot Uveitis

scientific article

Alteration of retinal layers in healthy subjects over 60 years of age until nonagenarians

scientific article published on 16 August 2017

Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration

scientific article

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration

scientific article

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

scientific article

Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration ⬇️

scientific article published on August 18, 2012

Association of Hyperreflective Foci Present in Early Forms of Age-Related Macular Degeneration With Known Age-Related Macular Degeneration Risk Polymorphisms

scientific article published on August 2016

Association of Smoking and CFH and ARMS2 Risk Variants With Younger Age at Onset of Neovascular Age-Related Macular Degeneration.

scientific article published on May 2015

Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy

scientific article published on 23 March 2017

Asymmetric Inter-Eye Progression in Stargardt Disease.

scientific article published in December 2016

Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome

scientific article published on 2 April 2004

Basal laminar drusen caused by compound heterozygous variants in the CFH gene

scientific article published on February 2008

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

scientific article

CRB1 mutation spectrum in inherited retinal dystrophies

scientific article

Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis

scientific article published in October 2016

Central areolar choroidal dystrophy

scientific article published on 25 February 2009

Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging

scientific article

Central areolar choroidal dystrophy associated with dominantly inherited drusen

scientific article

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

scientific article

Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life

scientific article

Clinical and genetic characteristics of late-onset Stargardt's disease

scientific article

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy

scientific article published in August 2007

Clinical characteristics of familial and sporadic age-related macular degeneration: differences and similarities.

scientific article published on 9 October 2014

Comparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial.

scientific article published on 21 September 2015

Complement factor D in age-related macular degeneration

scientific article published on 11 November 2011

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

scientific article published on 15 January 2010

Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT: Classification of Atrophy Report 3.

scientific article

Cumulative Effect of Risk Alleles in CFH, ARMS2, and VEGFA on the Response to Ranibizumab Treatment in Age-related Macular Degeneration ⬇️

scientific article published on July 26, 2012

Cuticular drusen: stars in the sky.

scientific article published on 09 September 2013

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

scientific article

Eccentric Gaze Direction in Patients with Central Field Loss ⬇️

scientific article published on October 1, 2011

Elevated Steroid Hormone Levels in Active Chronic Central Serous Chorioretinopathy

scientific article published on 01 August 2019

Environmental and genetic risk factors for retinal angiomatous proliferation

scientific article published on 22 May 2014

Evaluation of Serum Lipid Concentrations and Genetic Variants at High-Density Lipoprotein Metabolism Loci andTIMP3in Age-Related Macular Degeneration ⬇️

scientific article published on July 25, 2011

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

scientific article

Fast Convolutional Neural Network Training Using Selective Data Sampling: Application to Hemorrhage Detection in Color Fundus Images

scientific article published on 8 February 2016

Foveal sparing in Stargardt disease.

scientific article published on 16 October 2014

GENETIC RISK FACTORS IN ACUTE CENTRAL SEROUS CHORIORETINOPATHY

article

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

scientific article

Genetic Variants and Systemic Complement Activation Levels Are Associated With Serum Lipoprotein Levels in Age-Related Macular Degeneration

scientific article published on 01 December 2015

Genetic and environmental risk factors for extramacular drusen

scientific article published on 04 October 2020

Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration

scientific article published on 29 April 2019

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration

scientific article published on 15 October 2018

Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration

scientific article published on 24 August 2012

Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages

scientific article

Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration

scientific article published in February 2018

Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy

scientific article

Geographic distribution of rare variants associated with age-related macular degeneration

scientific article published on 27 January 2018

Half-Dose Photodynamic Therapy versus High-Density Subthreshold Micropulse Laser Treatment in Patients with Chronic Central Serous Chorioretinopathy: The PLACE Trial

scientific article published on 14 June 2018

Half-dose photodynamic therapy followed by diode micropulse laser therapy as treatment for chronic central serous chorioretinopathy: evaluation of a prospective treatment protocol

scientific article published on 15 December 2015

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

scientific article published on 06 April 2011

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

scientific article

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

scientific article

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

scientific article

Hyperreflective foci on optical coherence tomography associate with treatment outcome for anti-VEGF in patients with diabetic macular edema

scientific article published in PLoS ONE

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

scientific article

Imaging Protocols in Clinical Studies in Advanced Age-Related Macular Degeneration: Recommendations from Classification of Atrophy Consensus Meetings

scientific article published on 18 January 2017

Impact of motion-associated noise on intrinsic optical signal imaging in humans with optical coherence tomography.

scientific article published on 9 April 2015

Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels

scientific article

Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration

article published in 2019

Lipofuscin-associated photo-oxidative stress during fundus autofluorescence imaging

scientific article

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

scientific article published on 28 June 2018

Major predictive factors for progression of early to late age-related macular degeneration

scientific article published on 13 March 2020

Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration

article by Bénédicte M.J. Merle et al published August 2018 in Ophthalmology

Metabolomics in serum of patients with non-advanced age-related macular degeneration reveals aberrations in the glutamine pathway.

scientific article

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

scientific article

Multi-country real-life experience of anti-vascular endothelial growth factor therapy for wet age-related macular degeneration

scientific article

Multimodal imaging of the disease progression of birdshot chorioretinopathy

scientific article published on 27 May 2016

Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.

scientific article

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

scientific article

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

scientific article published on 13 September 2014

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

scientific article

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

scientific article published in October 2010

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

scientific article published on 29 September 2013

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

scientific article

Near-infrared reflectance imaging of neovascular age-related macular degeneration

scientific article

Neovascular age-related macular degeneration without drusen in the fellow eye: clinical spectrum and therapeutic outcome

scientific article published on 21 December 2016

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

scientific article

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

scientific article published on 9 April 2015

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

scientific article

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa

scientific article

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

scientific article (publication date: 2 March 2005)

Nutritional risk factors for age-related macular degeneration.

scientific article

Outcome of ABCA4 microarray screening in routine clinical practice

scientific article published on 20 December 2009

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

scientific article published in June 2002

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

scientific article

Progression of Late-Onset Stargardt Disease.

scientific article published on October 2016

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

scientific article published on 23 June 2010

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Reply

scientific article published on 22 November 2018

Reply

Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration

scientific article published on 30 November 2011

Risk factors for development and progression of diabetic retinopathy in Dutch patients with type 1 diabetes mellitus

article

Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study

scientific article published on 01 October 2018

Spectral-domain optical coherence tomography in subjects over 60 years of age, and its implications for designing clinical trials

scientific article published on 3 August 2012

Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration

scientific article

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16

scientific article (publication date: 2004)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

scientific article published on 28 April 2015

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

scientific article published on 04 April 2019

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

scientific article published on 16 April 2009

The spectrum of phenotypes caused by variants in the CFH gene.

scientific article

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

scientific article published on 26 January 2008

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

scientific article published on 22 December 2004

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa

scientific article published in March 2004

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

scientific article

Visual Rehabilitation in Chronic Cerebral Blindness: A Randomized Controlled Crossover Study

scientific article

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

scientific article

Zinc supplementation inhibits complement activation in age-related macular degeneration

scientific article

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