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3. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, Cornelis, Stéphanie S., De Pozo-Valero, Marta l, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J.F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C.W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, De Roach, John N., Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H.F., Dhaenens, Claire‐Marie, and Cremers, Frans P.M.

Published
2020
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5. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Author

Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B.G.M., Pott, Jan-Willem R., Thiadens, Alberta A.H.J., Klaver, Caroline C.W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H.F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W.J., and Cremers, Frans P.M.

Published
2019
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6. Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Author

Cornelis, Stéphanie S., IntHout, Joanna, Runhart, Esmee H., Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J., Whelan, Laura, Farrar, G. Jane, Sharon, Dror, van den Born, L. Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R., Roosing, Susanne, Mahroo, Omar A., Dhaenens, Claire-Marie, and Cremers, Frans P. M.

Published
2024
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7. Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Author

Runhart, Esmee H, Dhooge, Patty, Meester-Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R, van Leeuwen, Redmer, Kroes, Hester Y, Bergen, Arthur A, de Jong-Hesse, Yvonne, Thiadens, Alberta A, van Schooneveld, Mary J, van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L Ingeborg, Cremers, Frans P M, Hoyng, Carel B, Runhart, Esmee H, Dhooge, Patty, Meester-Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R, van Leeuwen, Redmer, Kroes, Hester Y, Bergen, Arthur A, de Jong-Hesse, Yvonne, Thiadens, Alberta A, van Schooneveld, Mary J, van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L Ingeborg, Cremers, Frans P M, and Hoyng, Carel B

Abstract

PURPOSE: To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases.METHODS: For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry. Annual incidence (2014-2018) and point prevalence (2018) were assessed on the basis of this registry.RESULTS: A total of 800 patients were registered, 56% were female and 83% were of European ancestry. The incidence was 1.67-1.95:1,000,000 per year and the point prevalence in 2018 was approximately 1:22,000-1:19,000 (with and without 10% of potentially unregistered cases). Age at onset was associated with sex (p = 0.027, Fisher's exact); 1.9x more women than men were observed (140 versus 74) amongst patients with an age at onset between 10 and 19 years, while the sex ratio in other age-at-onset categories approximated one. Late-onset STGD1 (≥45 years) constituted 33% of the diagnoses in 2014-2018 compared to 19% in 2004-2008. Diagnostic delay (≥2 years between the first documentation of macular abnormalities and diagnosis) was associated with older age of onset (p = 0.001, Mann-Whitney). Misdiagnosis for age-related macular degeneration (22%) and incidental STGD1 findings (14%) was common in patients with late-onset STGD1.CONCLUSION: The observed prevalence of STGD1 in real-world data was lower than expected on the basis of population ABCA4 allele frequencies. Late-onset STGD1 was more frequently diagnosed in recent years, likely due to higher awareness of its phenotype. In this pretherapeutic era, mis- and underdiagnosis of especially late-onset STGD1 and the role of sex in STGD1 should receive special attention.

Published
2022

8. Stargardt disease:monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Author

Runhart, Esmee H., Dhooge, Patty, Meester-Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong-Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P.M., Hoyng, Carel B., Runhart, Esmee H., Dhooge, Patty, Meester-Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong-Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P.M., and Hoyng, Carel B.

Abstract

Purpose: To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases. Methods: For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry. Annual incidence (2014-2018) and point prevalence (2018) were assessed on the basis of this registry. Results: A total of 800 patients were registered, 56% were female and 83% were of European ancestry. The incidence was 1.67-1.95:1,000,000 per year and the point prevalence in 2018 was approximately 1:22,000-1:19,000 (with and without 10% of potentially unregistered cases). Age at onset was associated with sex (p = 0.027, Fisher’s exact); 1.9x more women than men were observed (140 versus 74) amongst patients with an age at onset between 10 and 19 years, while the sex ratio in other age-at-onset categories approximated one. Late-onset STGD1 (≥45 years) constituted 33% of the diagnoses in 2014-2018 compared to 19% in 2004-2008. Diagnostic delay (≥2 years between the first documentation of macular abnormalities and diagnosis) was associated with older age of onset (p = 0.001, Mann–Whitney). Misdiagnosis for age-related macular degeneration (22%) and incidental STGD1 findings (14%) was common in patients with late-onset STGD1. Conclusion: The observed prevalence of STGD1 in real-world data was lower than expected on the basis of population ABCA4 allele frequencies. Late-onset STGD1 was more frequently diagnosed in recent years, likely due to higher awareness of its phenotype. In this pretherapeutic era, mis- and underdiagnosis of especially late-onset STGD1 and the role of sex in STGD1 should receive special attention.

Published
2022

9. Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Author

MS Oogheelkunde, Infection & Immunity, Genetica, Genetica Klinische Genetica, Child Health, Runhart, Esmee H., Dhooge, Patty, Meester-Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong-Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P.M., Hoyng, Carel B., MS Oogheelkunde, Infection & Immunity, Genetica, Genetica Klinische Genetica, Child Health, Runhart, Esmee H., Dhooge, Patty, Meester-Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong-Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P.M., and Hoyng, Carel B.

Published
2022

10. Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Author

Runhart, Esmee H., primary, Dhooge, Patty, additional, Meester‐Smoor, Magda, additional, Pas, Jeroen, additional, Pott, Jan Willem R., additional, Leeuwen, Redmer, additional, Kroes, Hester Y., additional, Bergen, Arthur A., additional, Jong‐Hesse, Yvonne, additional, Thiadens, Alberta A., additional, Schooneveld, Mary J., additional, Genderen, Maria, additional, Boon, Camiel, additional, Klaver, Caroline, additional, den Born, L. Ingeborg, additional, Cremers, Frans P. M., additional, and Hoyng, Carel B., additional

Published
2021
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11. Genetic risk estimates for offspring of patients with Stargardt disease

Author

Cornelis, Stéphanie S., primary, Runhart, Esmee H., additional, Bauwens, Miriam, additional, Corradi, Zelia, additional, de Baere, Elfride, additional, Roosing, Susanne, additional, Haer-Wigman, Lonneke, additional, Dhaenens, Claire-Marie, additional, Vulto-van Silfhout, Anneke T., additional, and Cremers, Frans P.M., additional

Published
2021
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14. Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.

Author

Runhart, Esmee H., Dhooge, Patty, Meester‐Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong‐Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P. M., and Hoyng, Carel B.

Subjects
*STARGARDT disease, *MEDICAL registries, *DISEASE incidence, *DELAYED diagnosis, *RETINAL degeneration
Abstract

Purpose: To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases. Methods: For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry. Annual incidence (2014‐2018) and point prevalence (2018) were assessed on the basis of this registry. Results: A total of 800 patients were registered, 56% were female and 83% were of European ancestry. The incidence was 1.67‐1.95:1,000,000 per year and the point prevalence in 2018 was approximately 1:22,000‐1:19,000 (with and without 10% of potentially unregistered cases). Age at onset was associated with sex (p = 0.027, Fisher's exact); 1.9x more women than men were observed (140 versus 74) amongst patients with an age at onset between 10 and 19 years, while the sex ratio in other age‐at‐onset categories approximated one. Late‐onset STGD1 (≥45 years) constituted 33% of the diagnoses in 2014‐2018 compared to 19% in 2004‐2008. Diagnostic delay (≥2 years between the first documentation of macular abnormalities and diagnosis) was associated with older age of onset (p = 0.001, Mann–Whitney). Misdiagnosis for age‐related macular degeneration (22%) and incidental STGD1 findings (14%) was common in patients with late‐onset STGD1. Conclusion: The observed prevalence of STGD1 in real‐world data was lower than expected on the basis of population ABCA4 allele frequencies. Late‐onset STGD1 was more frequently diagnosed in recent years, likely due to higher awareness of its phenotype. In this pretherapeutic era, mis‐ and underdiagnosis of especially late‐onset STGD1 and the role of sex in STGD1 should receive special attention. [ABSTRACT FROM AUTHOR]

Published
2022
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15. Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, primary, Cornelis, Stéphanie S., additional, del Pozo-Valero, Marta, additional, Whelan, Laura, additional, Runhart, Esmee H., additional, Mishra, Ketan, additional, Bults, Femke, additional, AlSwaiti, Yahya, additional, AlTabishi, Alaa, additional, De Baere, Elfride, additional, Banfi, Sandro, additional, Banin, Eyal, additional, Bauwens, Miriam, additional, Ben-Yosef, Tamar, additional, Boon, Camiel J.F., additional, van den Born, L. Ingeborgh, additional, Defoort, Sabine, additional, Devos, Aurore, additional, Dockery, Adrian, additional, Dudakova, Lubica, additional, Fakin, Ana, additional, Farrar, G. Jane, additional, Ferraz Sallum, Juliana Maria, additional, Fujinami, Kaoru, additional, Gilissen, Christian, additional, Glavač, Damjan, additional, Gorin, Michael B., additional, Greenberg, Jacquie, additional, Hayashi, Takaaki, additional, Hettinga, Ymkje, additional, Hoischen, Alexander, additional, Hoyng, Carel B., additional, Hufendiek, Karsten, additional, Jägle, Herbert, additional, Kamakari, Smaragda, additional, Karali, Marianthi, additional, Kellner, Ulrich, additional, Klaver, Caroline C.W., additional, Kousal, Bohdan, additional, Lamey, Tina, additional, MacDonald, Ian M., additional, Matynia, Anna, additional, McLaren, Terri, additional, Mena, Marcela D., additional, Meunier, Isabelle, additional, Miller, Rianne, additional, Newman, Hadas, additional, Ntozini, Buhle, additional, Oldak, Monika, additional, Pieterse, Marc, additional, Podhajcer, Osvaldo L., additional, Puech, Bernard, additional, Ramesar, Raj, additional, Rüther, Klaus, additional, Salameh, Manar, additional, Salles, Mariana Vallim, additional, Sharon, Dror, additional, Simonelli, Francesca, additional, Spital, Georg, additional, Steehouwer, Marloes, additional, Szaflik, Jacek P., additional, Thompson, Jennifer A., additional, Thuillier, Caroline, additional, Tracewska, Anna M., additional, van Zweeden, Martine, additional, Vincent, Andrea L., additional, Zanlonghi, Xavier, additional, Liskova, Petra, additional, Stöhr, Heidi, additional, De Roach, John, additional, Ayuso, Carmen, additional, Roberts, Lisa, additional, Weber, Bernard H.F., additional, Dhaenens, Claire-Marie, additional, and Cremers, Frans P.M., additional

Published
2019
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16. Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

Author

Runhart, Esmee H., primary, Valkenburg, Dyon, additional, Cornelis, Stéphanie S., additional, Khan, Mubeen, additional, Sangermano, Riccardo, additional, Albert, Silvia, additional, Bax, Nathalie M., additional, Astuti, Galuh D. N., additional, Gilissen, Christian, additional, Pott, Jan-Willem R., additional, Verheij, Joke B. G. M., additional, Blokland, Ellen A. W., additional, Cremers, Frans P. M., additional, van den Born, L. Ingeborgh, additional, and Hoyng, Carel B., additional

Published
2019
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19. The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants

Author

Runhart, Esmee H., primary, Sangermano, Riccardo, additional, Cornelis, Stéphanie S., additional, Verheij, Joke B. G. M., additional, Plomp, Astrid S., additional, Boon, Camiel J. F., additional, Lugtenberg, Dorien, additional, Roosing, Susanne, additional, Bax, Nathalie M., additional, Blokland, Ellen A. W., additional, Jacobs-Camps, Marlie H. M., additional, van der Velde-Visser, Saskia D., additional, Pott, Jan-Willem R., additional, Rohrschneider, Klaus, additional, Thiadens, Alberta A. H. J., additional, Klaver, Caroline C. W., additional, van den Born, L. Ingeborgh, additional, Hoyng, Carel B., additional, and Cremers, Frans P. M., additional

Published
2018
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21. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Author

Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, and Cremers FPM

Subjects
Adult, Age of Onset, Aged, Electroretinography, Female, Fluorescein Angiography, Gene Frequency, Genetic Complementation Test, Humans, Macular Degeneration diagnosis, Macular Degeneration genetics, Macular Degeneration physiopathology, Male, Middle Aged, Pedigree, Penetrance, Retrospective Studies, Sequence Analysis, DNA, Siblings, Stargardt Disease, Tomography, Optical Coherence, Visual Acuity physiology, ATP-Binding Cassette Transporters genetics, Macular Degeneration congenital, Mutation, Polymorphism, Single Nucleotide
Abstract

Purpose: To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants., Methods: The coding and noncoding regions of ABCA4 were sequenced in 67 and 63 STGD1 probands respectively, harboring monoallelic ABCA4 variants. In case p.Asn1868Ile was detected, segregation analysis was performed whenever possible. Probands and affected siblings harboring p.Asn1868Ile without additional variants in cis were clinically evaluated retrospectively. Two asymptomatic siblings carrying the same ABCA4 variants as their probands were clinically examined. The penetrance of p.Asn1868Ile was calculated using allele frequency data of ABCA4 variants in non-Finnish European individuals., Results: The p.Asn1868Ile variant was found in cis with known variants in 14/67 probands. In 27/67 probands, we identified p.Asn1868Ile without additional variants in cis, in combination with known, mainly severe ABCA4 variants. In 23/27 probands, the trans configuration was established. Among 27 probands and 6/7 STGD1 siblings carrying p.Asn1868Ile, 42% manifested late-onset disease (>44 years). We additionally identified four asymptomatic relatives carrying a combination of a severe variant and p.Asn1868Ile; ophthalmologic examination in two persons did not reveal STGD1. Based on ABCA4 allele frequency data, we conservatively estimated the penetrance of p.Asn1868Ile, when present in trans with a severe variant, to be below 5%., Conclusions: A significant fraction of genetically unexplained STGD1 cases carries p.Asn1868Ile as a second variant. Our findings suggest exceptional differences in disease expression or even nonpenetrance of this ABCA4 variant, pointing toward an important role for genetic or environmental modifiers in STGD1.

Published
2018
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