L. Ingeborgh van den Born

Rotterdam Eye Hospital — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

54h-index9.7kcitations194works4.32yr avg
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Research Topics

Retinal Development and Disorders(128), Retinal Diseases and Treatments(80), Ocular Disorders and Treatments(16), Glaucoma and retinal disorders(15), Photoreceptor and optogenetics research(14)

Publications192 total

<i>EGFLAM</i> Pathogenic Variants and Congenital Stationary Night Blindness
JAMA Ophthalmology·2025Open Access
Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis
Acta Ophthalmologica·2025Open Access
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
npj Genomic Medicine·2025Open Access
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa
Genetics in Medicine·2025· 2 citedOpen Access
Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies
Investigative Ophthalmology & Visual Science·2025· 1 citedOpen Access
Bile Acid Metabolism Changes in Patients with a CRB1-Associated Inherited Retinal Degeneration
Ophthalmology Science·2025Open Access
Automated Cone Photoreceptor Detection in Adaptive Optics Flood Illumination Ophthalmoscopy
Ophthalmology Science·2024· 2 citedOpen Access
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium
Investigative Ophthalmology & Visual Science·2024· 4 citedOpen Access
Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa
BMJ Open Ophthalmology·2024· 2 citedOpen Access
Multicentric Longitudinal Prospective Study in a European Cohort of <i>MYO7A</i> Patients: Disease Course and Implications for Gene Therapy
Investigative Ophthalmology & Visual Science·2024· 6 citedOpen Access
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)
Graefe s Archive for Clinical and Experimental Ophthalmology·2024· 8 citedOpen Access
Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy
JAMA Ophthalmology·2024· 10 citedOpen Access
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Biomolecules·2024· 7 citedOpen Access
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
Genetics in Medicine·2024· 14 citedOpen Access
The Gut Metabolism is altered in patients with <i>CRB1</i> -associated inherited retinal degeneration
2024Open Access
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
Ophthalmology Retina·2023· 9 citedOpen Access
Elevated Plasma Complement Factors in <i>CRB1</i> -associated Inherited Retinal Dystrophies
2023Open Access
<i>CRB1</i>-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells
Investigative Ophthalmology & Visual Science·2023· 7 citedOpen Access
Quality of life in patients with <i>CRB1</i>‐associated retinal dystrophies: A longitudinal study
Acta Ophthalmologica·2023· 6 citedOpen Access
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Human Genetics and Genomics Advances·2023· 27 citedOpen Access
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Frequent Co-authors

Frans P.M. Cremers(37), Carel B. Hoyng(33), Anneke I. den Hollander(24), Caroline C. W. Klaver(19), Rob W.J. Collin(18), Robert K. Koenekoop(13), Mary J. van Schooneveld(13), Marijke N. Zonneveld(12), Klaus Rohrschneider(12), Susanne Roosing(12), Arthur A. Bergen(10), Alberta A. H. J. Thiadens(10), Elfride De Baere(10), B. Jeroen Klevering(8), Tim M. Strom(7), Karin W. Littink(7), Ulrich Kellner(6), Anna M. Siemiatkowska(6), Bart P. Leroy(6), Riccardo Sangermano(6)