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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

Comprehensive tissue specificity analysis identifies (novel) retina-specific, long non-coding RNAs

Emma Delanote; Alfredo Dueñas Rey; Karla Ruiz; Victor López Soriano; Manon Bouckaert; Kelly Lemeire; Jasper Verwilt; Hanne Lenaerts; Sarah De Keulenaer; Filip Van Nieuwerburgh; Eva D'Haene; Elfride De Baere; Pieter Mestdagh; Steve Lefever; Sandro Banfi; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):639.

ARVO Annual Meeting Abstract June 2024

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Amber Waddell; C. Blair Compton; Stéphanie S. Cornelis; Amy Dameron; Marieke De Bruyne; Miriam Bauwens; Mathieu Quinodoz; Eva Lenassi; Robyn Jamieson; Claire-Marie Dhaenhens; Andrea L Vincent; Abby T Fahim; Frans Cremers; Elfride De Baere; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):452.

ARVO Annual Meeting Abstract June 2024

A novel RPE65 -related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Eline Van Vooren; Filip Van Den Broeck; Marieke De Bruyne; Quinten Mahieu; Sheetal Uppal; Eugenia Poliakov; T. Michael Redmond; Julie De Zaeytijd; Bart Peter Leroy; Miriam Bauwens; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1517.

ARVO Annual Meeting Abstract June 2024

A multi-omics approach increases the diagnostic yield ‘beyond the exome’ in unsolved patients with inherited eye diseases

Miriam Bauwens; Marta Del Pozo Valero; Marieke De Bruyne; Filip Van Den Broeck; Quinten Mahieu; Stijn Van de Sompele; Audrey Meunier; Thomy De Ravel; Joke Ruys; Mattias Van Heetvelde; Irina Balikova; Sascha Vermeer; Julie De Zaeytijd; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4939.

ARVO Annual Meeting Abstract June 2024

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon Bouckaert; Kyana Van Acker; Maria Georgiou; Filip Van Den Broeck; Edith De Bruycker; Alfredo Dueñas Rey; Emma Delanote; Hanne Lenaerts; Melita Kaltak; Elfride De Baere; Katrien Remaut; Louis Delhaye; Julie De Zaeytijd; Bart Peter Leroy; Majlinda Lako; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5321.

ARVO Annual Meeting Abstract June 2024

Single domain antibodies to tackle autosomal dominant retinitis pigmentosa caused by NR2E3 mutation G56R

Edith De Bruycker; Olivier Zwaenepoel; Frauke Coppieters; Jan Gettemans; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5309.

ARVO Annual Meeting Abstract June 2024

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Christopher Hallock; Riccardo Sangermano; Elfride De Baere; Siying Lin; Jennifer Thompson; Pascal Escher; Andrea L Vincent; Kaylie D Webb-Jones; Monika Grudzinska Pechhacker; Jacque L Duncan; Samer Khateb; Tamar Ben-Yosef; David G Birch; Andrew Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5297.

ARVO Annual Meeting Abstract June 2024

Phenotypic Variability and Evolution of MFSD8 -related Retinal Disease

Manon Van Haute; Evangelia S. Panagiotou; Filip Van Den Broeck; Hwei Wuen Chan; Marieke De Bruyne; Sophie Walraedt; Miriam Bauwens; Elfride De Baere; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6031.

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

Results of Belgian patients with RPE65 -related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Leen Hertens; Caroline Van Cauwenbergh; Filip Van den Broeck; Julie Sambaer; Manon Van Haute; Pieter Hertens; Elfride De Baere; Geraldine Accou; Fanny Nerinckx; Bart Peter Leroy

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):762.

ARVO Annual Meeting Abstract June 2023

Multi-omics profiling, in vitro and in vivo approaches to interpret non-coding variation in inherited retinal diseases

Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1276.

ARVO Annual Meeting Abstract June 2023

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta Del Pozo Valero; Miriam Bauwens; Marieke De Bruyne; Filip Van den Broeck; Stephanie Dulst; Quinten Quinten; Audrey Meunier; Thomy de Ravel; Joke Ruys; Mattias Van Heetvelde; Irina Balikova; Sascha Vermeer; Julie De Zaeytijd; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2852.

ARVO Annual Meeting Abstract June 2023

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Alfredo Dueñas Rey; Manon Bouckaert; Marta Del Pozo Valero; Marieke De Bruyne; Mattias Van Heetvelde; Jamie Ellingford; Gavin Arno; Andrew R Webster; Carmen Ayuso; Carlo Rivolta; Bart Peter Leroy; Miriam Bauwens; Julie De Zaeytijd; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2851.

ARVO Annual Meeting Abstract June 2023

Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium

Eva D'haene; Pedro M. Martínez-García; Víctor López-Soriano; Miriam Bauwens; Lies Vantomme; Sarah Vergult; Juan R. Martinez-Morales; Juan J. Tena; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2849.

ARVO Annual Meeting Abstract June 2022

High myopia and vitreal veils in a patient with Poretti-Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Irina Balikova; Nawid Faizi; Paul Coucke; Marieke De Bruyne; Elfride De Baere; Ingele Casteels

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):493 – A0070.

ARVO Annual Meeting Abstract June 2022

Deciphering the genetic architecture of inherited retinal diseases (IRD) in the Iranian population by integrated exome sequencing

Miriam Bauwens; Kristof Van Schil; Marieke De Bruyne; Mattias Van Heetvelde; Quinten Mahieu; Toon Rosseel; Ebrahim Al-Hajj; Sarah Van Malderen; Reza Maroofian; Fatemeh Suri; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):143 – A0323.

ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339.

ARVO Annual Meeting Abstract June 2022

Integrated multi-omics analysis to dissect a cis -regulatory role of ultraconserved non-coding elements (UCNEs) in human developing and adult retina

Víctor López-Soriano; Alfredo Dueñas Rey; Stijn Van de Sompele; Frauke Coppieters; Andrew R Webster; Miriam Bauwens; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2629.

ARVO Annual Meeting Abstract June 2022

Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4 -associated inherited retinal disease

Alfredo Dueñas Rey; Víctor López-Soriano; Zelia Corradi; Claire-Marie Dhaenens; Manon Bouckaert; Jasper Verwilt; Avril M Watson; Majlinda Lako; Eva D’haene; Karla Alejandra Ruiz Ceja; Sandro Banfi; Miriam Bauwens; Frans P Cremers; Steve Lefever; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2628.

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Comprehensive tissue specificity analysis identifies (novel) retina-specific, long non-coding RNAs

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

A novel RPE65 -related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

A multi-omics approach increases the diagnostic yield ‘beyond the exome’ in unsolved patients with inherited eye diseases

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Single domain antibodies to tackle autosomal dominant retinitis pigmentosa caused by NR2E3 mutation G56R

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Phenotypic Variability and Evolution of MFSD8 -related Retinal Disease

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

Results of Belgian patients with RPE65 -related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Multi-omics profiling, in vitro and in vivo approaches to interpret non-coding variation in inherited retinal diseases

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

A systematic approach to characterize the contribution of 5’UTR variation to inherited retinal disease

Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium

High myopia and vitreal veils in a patient with Poretti-Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Deciphering the genetic architecture of inherited retinal diseases (IRD) in the Iranian population by integrated exome sequencing

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Integrated multi-omics analysis to dissect a cis -regulatory role of ultraconserved non-coding elements (UCNEs) in human developing and adult retina

Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4 -associated inherited retinal disease

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