van den Born, ophthalmologist
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Rotterdam Eye Hospital
Involved in studies:
- 2009-05 - Intraocular straylight in patients with retinitis pigmentosa.
- 2009-28 - Retinal layer segmentation in SD OCT images
- 2009-32 - Phenotyping and genotyping of retinal dystrophies in The Netherlands
- 2011-07 - Navilas™ laser versus classic frequency doubled Nd-YAG (532 nm) laser therapy for diabetic macu...
- 2008-02 - High resolution 1050 nm wavelenght centered spectral domain 3D Optical Coherence Tomography in Ma...
- 2009-04 - AN OPEN-LABEL DOSE ESCALATION STUDY OF AN ADENO-ASSOCIATED VIRUS VECTOR (AAV2/2-hRPE65p-hRPE65) F...
- 2008-20 - Continuation of anti-VEGF (bevacizumab/ranibizumab) versus RPE-choroid graft in the treatment of ...
- 2011-17 - The Most Effective Treatment Strategy for Diabetic Macular Edema.
- 2012-15 - Evaluation of intra- and transretinal blood flow in Retinal Angiomatous Proliferation detected wi...
- 2013-18 - Somatostatin analogues for the treatment of chronic macular edema in retinal disease
- 2013-29 - Phenotyping and genotyping of retinal dystrophies in The Netherlands – Rotterdam Cohort
- 2013-30 - Genetic epidemiological studies of retinitis pigmentosa - insights translated into clinical practice
- 2010-22 - Intravitreal versus submacular injection of rtPA for acute submacular haemorrhages.
- 2011-18 - RET IRD 01
- 2009-36 - Optimization of the (cost)-effectiveness in the anti-VEGF-A therapy for exudative age-related mac...
- 2007-06 - Avastin-Injections in Age Related Macular Degeneration: Prospective Study for Optimal Frequency a...
- 2012-03 - Combined Ophthalmic Research Rotterdam Biobank
- 2013-16 - Transcorneal electrical stimulation for the treatment of retinitis pigmentosa. A multicenter safe...
- 2015-17 - Inherited Retinal Disease Clinical Study Protocol RET NAT 01
- 2010-02 - Long-term follow-up of Avastin-Injections in Age Related Macular Degeneration: Prospective Study ...
- 2017-22 - A Multicentre, Prospective, Longitudinal, Observational Natural History Study to Evaluate Disease...
- 2009-26 - Early treatment of central serous retinopathy by photodynamic therapy: A randomized controlled tr...
- 2018-34 - Study to Evaluate the Feasibility and Variability of Select Vision Assessments in Subjects with L...
- 2001-23 - Congenital blindness and early forms of retinitis pigmentosa: identification of molecular causes ...
- 2003-15 - Congenital blindness, retinitis pigmentosa and cone-rod dystrophy: Identification of molecular ca...
Publications
- Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. Invest. Ophthalmol. Vis. Sci. 2019, Volume 60, Issue 13, pages 4249-4256
- Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2019, Volume 60, Issue 6, pages 2049-2063
- The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. Orphanet J Rare Dis 2019, Volume 14, Issue 1, pages 249
- Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genet. Med. 2019, Volume 21, Issue 8, pages 1751-1760
- Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of on-demand therapy every 4 or 8 weeks. Acta Ophthalmol 2019, Volume 97, Issue 1, pages 107-112
- Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age-related macular degeneration, glaucoma and cataract. Acta Ophthalmol 2019, Volume 97, Issue 2, pages 185-192
- CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. Retina (Philadelphia, Pa.) 2019, Volume 39, Issue 6, pages 1186-1199
- Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. J. Med. Genet. 2018, Volume 55, Issue 10, pages 705-712
- Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes (Basel) 2018, Volume 9, Issue 1, pages
- Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes (Basel) 2018, Volume 9, Issue 2, pages
- Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. Int J Mol Sci 2018, Volume 19, Issue 3, pages
- The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene. Invest. Ophthalmol. Vis. Sci. 2018, Volume 59, Issue 10, pages 4123-4133
- ABCA4 midigenes reveal the full splice spectrum of all reported non-canonical splice site variants in Stargardt disease. Genome Res. 2018, Volume 28, Issue 1, pages 100-110
- Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290. Invest. Ophthalmol. Vis. Sci. 2018, Volume 59, Issue 11, pages 4384-4391
- The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. Invest. Ophthalmol. Vis. Sci. 2018, Volume 59, Issue 8, pages 3220-3231
- Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology 2017, Volume 124, Issue 7, pages 992-1003
- Long-term Follow-up of Patients with Retinitis Pigmentosa Type 12 Caused by CRB1 Mutations: A Severe Phenotype With Considerable Interindividual Variability. Retina (Philadelphia, Pa.) 2017, Volume 37, Issue 1, pages 161-172
- Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur. J. Hum. Genet. 2017, Volume 25, Issue 5, pages 591-599
- Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. J. Med. Genet. 2017, Volume 54, Issue 9, pages 624-632
- A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. Genes (Basel) 2017, Volume 8, Issue 8, pages pii: E208
- Straylight as an Indicator for Cataract Extraction in Patients with Retinal Dystrophy. Ophthalmol Retina 2017, Volume 1, Issue 6, pages 531-544
- Development of refractive errors - what can we learn from inherited retinal dystrophies? Am. J. Ophthalmol. 2017, Volume 182, Issue , pages 81-89
- Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2016, Volume 57, Issue 14, pages 6180-6187
- Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Invest. Ophthalmol. Vis. Sci. 2016, Volume 57, Issue 11, pages 4806-13
- Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease. Ophthalmology 2016, Volume 123, Issue 6, pages 1375-1385
- Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology 2016, Volume 123, Issue 5, pages 1151-1160
- Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis. N. Engl. J. Med. 2015, Volume 372, Issue 20, pages 1887-1897
- Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. Br J Ophthalmol 2015, Volume 99, Issue 10, pages 1360-5
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum. Mol. Genet. 2015, Volume 24, Issue 1, pages 230-42
- Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy. Ophthalmology 2015, Volume 122, Issue 1, pages 170-179
- Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. Acta Ophthalmol 2015, Volume 93, Issue 1, pages 83-94
- Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant. Hum. Mutat. 2015, Volume 36, Issue 1, pages 43-7
- Method for segmentation of the layers in the outer retina. Conf Proc IEEE Eng Med Biol Soc 2015, Volume 2015, Issue , pages 5646-9
- Correspondence. Retina (Philadelphia, Pa.) 2015, Volume 35, Issue 9, pages e57-e58
- A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2015, Volume 56, Issue 12, pages 7418-7426
- The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. Mol. Vis. 2015, Volume 21, Issue , pages 461-476
- Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy. J Vis 2015, Volume 15, Issue 15, pages 20
- Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). PLoS ONE 2015, Volume 10, Issue 12, pages e0143846
- The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases. Invest. Ophthalmol. Vis. Sci. 2014, Volume 55, Issue 11, pages 7355-60
- IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. Invest. Ophthalmol. Vis. Sci. 2014, Volume 55, Issue 6, pages 3939-53
- Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet 2014, Volume 384, Issue 9953, pages 1513-20
- Nature of the Visual Loss in Observers With Leber's Congenital Amaurosis Caused by Specific Mutations in RPE65. Invest. Ophthalmol. Vis. Sci. 2014, Volume 55, Issue 10, pages 6817-28
- Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 2014, Volume 95, Issue 2, pages 131-42
- Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Mol. Vis. 2014, Volume 20, Issue , pages 753-9
- Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology 2013, Volume 120, Issue 10, pages 2072-81
- Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology 2013, Volume 120, Issue 6, pages 1239-46
- Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 2013, Volume 93, Issue 1, pages 110-7
- Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum. Mutat. 2013, Volume 34, Issue 11, pages 1537-46
- Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology 2013, Volume 120, Issue 4, pages 809-20
- Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of injections every 4 weeks, 6 weeks and 8 weeks. Acta Ophthalmol 2013, Volume 91, Issue 6, pages e456-61
- Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 2013, Volume 120, Issue 12, pages 2697-705
- Accuracy of four commonly used color vision tests in the identification of cone disorders. Ophthalmic Epidemiol 2013, Volume 20, Issue 2, pages 114-21
- Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012, Volume 119, Issue 4, pages 819-26
- A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology 2012, Volume 119, Issue 9, pages 1899-906
- Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. Mol. Vis. 2012, Volume 18, Issue , pages 412-25
- Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch. Clin. Exp. Ophthalmol. 2011, Volume 249, Issue 10, pages 1527-35
- High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest. Ophthalmol. Vis. Sci. 2011, Volume 52, Issue 5, pages 2227-39
- A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Invest. Ophthalmol. Vis. Sci. 2010, Volume 51, Issue 7, pages 3646-52
- Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest. Ophthalmol. Vis. Sci. 2010, Volume 51, Issue 11, pages 5943-51
- Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology 2010, Volume 117, Issue 10, pages 2026-33, 2033.e1-7
- A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest. Ophthalmol. Vis. Sci. 2009, Volume 50, Issue 5, pages 2344-50
- Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 2008, Volume 83, Issue 5, pages 594-603
- Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. Mol. Vis. 2007, Volume 13, Issue , pages 1568-72
- Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 2006, Volume 47, Issue 3, pages 1167-76
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 2006, Volume 79, Issue 3, pages 556-61
- CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 2006, Volume 47, Issue 9, pages 3736-44
- [From gene to disease; Leber congenital amaurosis (LCA)]. Ned Tijdschr Geneeskd 2005, Volume 149, Issue 42, pages 2334-7
- Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur. J. Hum. Genet. 2004, Volume 12, Issue 12, pages 1024-32
- A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. J. Med. Genet. 2003, Volume 40, Issue 9, pages 709-13