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Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Dalila Capasso; Roberta Zeuli; Marianthi Karali; Raoul Timmermans; Michael Kwint; Enza Maria Valente; Sabrina Signorini; Gavin Arno; Frans Cremers; Sandro Banfi; Susanne Roosing; Daan Panneman; Suzanne E. de Bruijn

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4937.

ARVO Annual Meeting Abstract June 2024

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Dror Sharon; Tamar Hayman; Shai Ovadia; Jaya Krishnan; Manon Bouckaert; Daan Panneman; Milton English; Susanne Roosing; Frans Cremers; Tamar Ben-Yosef; Eyal Banin; Ruth Ashery-Padan; Frauke Coppieters; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4936.

ARVO Annual Meeting Abstract June 2024

Whole genome sequencing revealed causative deep-intronic PCDH15 and de novo USH2A variants in patients with Usher syndrome

Kim Rodenburg; L. Ingeborgh van den Born; Lonneke Haer-Wigman; Janine Reurink; Christian Gilissen; Frans PM Cremers; Tamar Ben-Yosef; Helger Yntema; Erik Vrieze; Ulrich Zechner; David Rosenkranz; Hannie Kremer; Erwin Wijk; Hanno J. Bolz; Suzanne E. de Bruijn; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4678.

ARVO Annual Meeting Abstract June 2024

Sequencing 105 macula disease-associated genes in an AMD cohort highlights the involvement of PRPH2 , BEST1 and RP1 in AMD-mimicking diseases.

Rebekkah Hitti-Malin; Anna Tracewska; Carel C B Hoyng; Caroline C W Klaver; Yara Lechanteur; Anneke I. Den Hollander; Björn Bakker; Erica G.M. Boonen; Susanne Roosing; Frans Cremers

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4662.

ARVO Annual Meeting Abstract June 2024

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

Manar Ismail Salameh; Daan Panneman; Susanne Roosing; Frans Cremers; Samer Khateb; Yahya Swaiti; Wissam Saleh; Eyal Banin; Alaa Talbishi; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6036.

ARVO Annual Meeting Abstract June 2023

Multi-omics approaches to identify the genetic defect underlying dominant cystoid macular (CYMD)

Suzanne de Bruijn; Michele Pinelli; Ivan Conte; Kasper Derks; Tabea V. Riepe; Silvia Albert; Frans P Cremers; Carel C B Hoyng; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4541.

ARVO Annual Meeting Abstract June 2023

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman; Susanne Roosing; Erica G.M Boonen; Chris Inglehearn; Martin McKibbin; Elfride De Baere; Thomy de Ravel; Sascha Vermeer; Andrea L Vincent; Robert K Koenekoop; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4518.

ARVO Annual Meeting Abstract June 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with cone-rod dystrophy and macular dystrophy

Maria Rodriguez-Hidalgo; Suzanne de Bruijn; Zelia Corradi; Kim Rodenburg; Araceli Lara-López; Almudena Avila-Fernández; Lidia Fernandez-Caballero; Carmen Ayuso; Cristina Irigoyen; Frans P Cremers; Javier Ruiz-Ederra; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4509.

ARVO Annual Meeting Abstract June 2023

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Rebekkah Hitti-Malin; Claire-Marie Dhaenens; Daan Panneman; Zelia Corradi; Anneke I. den Hollander; G Jane Farrar; Erica G.M Boonen; Christian Gilissen; Alexander Hoischen; Susanne Roosing; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3658.

ARVO Annual Meeting Abstract June 2022

Revisiting WGS data reveals previously overlooked structural variants disrupting IRD-associated genes

Suzanne de Bruijn; Kornelia Neveling; Rebekkah J Hitti-Malin; Jordi Corominas; Janine Reurink; Hannie Kremer; Ronald J.E. Pennings; Marcel Nelen; Christian Gilissen; Frans P Cremers; Alexander Hoischen; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):5.

ARVO Annual Meeting Abstract June 2022

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Janine Reurink; Erik de Vrieze; Catherina H.Z. Li; Sanne Broekman; Theo Peters; Kornelia Neveling; Hanka Venselaar; Christian Gilissen; Janneke J.C. van Lith-Verhoeven; Lonneke Haer-Wigman; Carel C B Hoyng; Frans P Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wyk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):491 – A0068.

ARVO Annual Meeting Abstract June 2022

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Rebekkah J Hitti-Malin; Susanne Roosing; Claire-Marie Dhaenens; Anneke I Den Hollander; G.Jane Farrar; Daan Panneman; Erica G.M Boonen; Laura de Rooij; Mariana Guimaraes Ramos; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):41.

ARVO Annual Meeting Abstract June 2022

Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis

Daan Panneman; Rebekkah J Hitti-Malin; Erica G.M Boonen; Lara K. Holtes; Mariana Guimaraes Ramos; Anna Maria Tracewska; Maartje van de Vorst; Bart de Koning; Christian Gilissen; Alexander Hoischen; Frans P Cremers; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):134 – A0314.

ARVO Annual Meeting Abstract June 2022

Functional investigation of candidate mis-splicing variants in retinal dystrophy genes using nanopore sequencing from patient blood samples

Neringa Jurkute; Jim Bellingham; Luca Varga; Michel Michaelides; Omar Abdul Rahman Mahroo; Susanne Roosing; Andrew R Webster; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):515 – A0092.

ARVO Annual Meeting Abstract June 2022

A nonsense variant in PEX5 is associated with an atypical peroxisome biogenesis disorder and retinitis pigmentosa.

Laura Whelan; Adrian Dockery; Ciara Shortall; Emma Duignan; Susanne Roosing; Paul F Kenna; G.Jane Farrar

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):508 – A0085.

ARVO Annual Meeting Abstract June 2022

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Susanne Roosing; Irene Vázquez-Domínguez; Catherina H.Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P Cremers; Carel C B Hoyng; Alejandro Garanto

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1600 – A0389.

ARVO Annual Meeting Abstract June 2022

Characterising the disease mechanisms of RP17 structural variants

Vasileios Toulis; Suzanne de Bruijn; Uira S Melo; Julio Corral-Serrano; Kwan Hau; Daniele Ottaviani; Steven J Fliesler; Susanne Roosing; Michael E Cheetham; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1595 – A0384.

ARVO Annual Meeting Abstract June 2022

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Dror Sharon; Talya Millo; Jose Antonio Rivera; Alexey Obolensky; Dvorah Marks-Ohana; Enosh Wilhelm; Prakadee Gopalakrish; Menachem Gross; Boris Rosin; Mor Hanany; Anna Maria Tracewska; Ora Schueler-Furman; Susanne Roosing; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2623.

ARVO Annual Meeting Abstract June 2022

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

Stéphanie Susanne Cornelis; Esmee Runhart; Miriam Bauwens; Zelia Corradi; Elfride De Baere; Susanne Roosing; Lonneke Haer-Wigman; Claire-Marie Dhaenens; Anneke T. Vulto-van Silfhout; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3766 – F0187.

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Whole genome sequencing revealed causative deep-intronic PCDH15 and de novo USH2A variants in patients with Usher syndrome

Sequencing 105 macula disease-associated genes in an AMD cohort highlights the involvement of PRPH2 , BEST1 and RP1 in AMD-mimicking diseases.

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

Multi-omics approaches to identify the genetic defect underlying dominant cystoid macular (CYMD)

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with cone-rod dystrophy and macular dystrophy

Large scale smMIPs-based sequencing of 908 probands to provide a genetic diagnosis for patients with inherited macular diseases.

Revisiting WGS data reveals previously overlooked structural variants disrupting IRD-associated genes

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases.

Cost-effective identification of causal variants in 113 genes underlying retinitis pigmentosa and Leber congenital amaurosis

Functional investigation of candidate mis-splicing variants in retinal dystrophy genes using nanopore sequencing from patient blood samples

A nonsense variant in PEX5 is associated with an atypical peroxisome biogenesis disorder and retinitis pigmentosa.

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Characterising the disease mechanisms of RP17 structural variants

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity

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