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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

Retina February 2025

Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1

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Kristina Pfau; Georg Ansari; Stephan Michels; Chantal Dysli; Sandra Liakopoulos; Jana Burghaus-Zhang; Mayss Al-Sheikh; Justus G. Garweg; Mathieu Quinodoz; Karolina Kaminska; Francesca Cancellieri; Carlo Rivolta; Sharon F. Terry; Nicolas Feltgen; Maximilian Pfau
TAGS: dark adaptation, pseudoxanthoma elasticum, study report, rod photoreceptors, calcification, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):17. https://doi.org/10.1167/iovs.66.2.17

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Biallelic mutations in COQ8B ( ADCK4 ) lead to non-syndromic retinitis pigmentosa in multiple families

Ana Belen Iglesias Romero; Karolina Kaminska; Cristina Santos; Siying Lin; Mathieu Quinodoz; Marc Folcher; Joaquim Tomaz Calado; Gavin Arno; Andrew R Webster; Ana Berta Sousa; Luisa C. Santos; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1523.

ARVO Annual Meeting Abstract June 2024

BMI1-related PRC1 activity as a hub of transcriptional regulation in inherited retinal degeneration

Yvan Arsenijevic; Martial Mbefo; Dhryata Kamdar; Mathieu Quinodoz; Carlo Rivolta; Adeline Berger

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4730.

ARVO Annual Meeting Abstract June 2024

Genetic analysis on inherited retinal diseases in Greece

Francesca Cancellieri; Konstantinos Nikopoulos; Mathieu Quinodoz; Muhammad Ansar; Nikolaos Kozeis; Christina Tsenikoglou; Magda Triantafylla; Theodoros Giannopoulos; Athina Kozei; Carlo Rivolta; Evangelia S. Panagiotou

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4673.

ARVO Annual Meeting Abstract June 2024

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Samantha Malka; Siying Lin; Elena Schiff; Genevieve Wright; Michel Michaelides; Omar Abdul Rahman Mahroo; Jessica Gardner; Alison J Hardcastle; Anne Marie Berry; Riccardo Sangermano; Carlo Rivolta; Mathieu Quinodoz; Kinga Maria Bujakowska; Radha Ayyagari; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4663.

ARVO Annual Meeting Abstract June 2024

Molecular genetic characterization of patients with inherited retinal diseases in Hungary: solving mysteries

Ji Hoon Han; András Végh; Mathieu Quinodoz; Dominik Dobos; Rita Vámos; Ágnes Takács; Krisztina Knézy; Balázs Lesch; Barbara Besztercei; Zoltán Zsolt Nagy; Balázs Varsányi; Mirella Telles Salgueiro Barboni; Ditta Zobor; Viktória Szabó; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4658.

ARVO Annual Meeting Abstract June 2024

Fully Automated Patient-Tailored Microperimetry: FirstOrbit-Study Report

Maximilian Pfau; Georg Ansari; Giacomo Calzetti; Lucas Janeschitz-Kriegl; Bence Gyorgy; Kristina Pfau; Helene Dollfus; Carlo Rivolta; Hendrik PN Scholl

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5403.

ARVO Annual Meeting Abstract June 2024

Fine-tuning of therapeutic gene regulation is essential for functional improvement in FAM161A-deficient ciliopathy

Corinne Kostic; Ning Chang; Olivier Mercey; Younes El Fersioui; Alexis-Pierre Bemelmans; Carlo Rivolta; Eyal Banin; Dror Sharon; Paul Guichard; Virginie Hamel; Yvan Arsenijevic

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5339.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

ARVO Annual Meeting Abstract June 2024

A feasibility study of a rare variant association test on inherited retinal diseases (IRDs)

Elifnaz Celik; Mathieu Quinodoz; Francesca Cancellieri; Karolina Kaminska; Bence Gyorgy; Maximilian Pfau; Lucas Janeschitz-Kriegl; Hoai Viet Tran; Veronika Vaclavik; Hendrik P Scholl; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4672.

ARVO Annual Meeting Abstract June 2024

Role of PMC (2,2,5,7,8-pentamethyl-6-chromanol), a sterically hindered phenol, in rescuing oxidized low-density lipoprotein (ox-LDL) induced cytotoxicity in human retinal pigment epithelial cells

Suman Chaudhary; Daisy Y Shu; Maria Chiara Rivolta; Emil Kriukov; Sergio Pestun; Petr Y Baranov; Yin Shan Eric Ng; Patricia A D'Amore

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6515.

ARVO Annual Meeting Abstract June 2023

A missense mutation in SLC6A6 impairs taurine transport and results in Leber congenital amaurosis with short cardiac atrioventricular conduction time

Mukhtar Ullah; Mathieu Quinodoz; Atta Ur Rehman; Madhur Shetty; Rosalie Grijalva; Giacomo Calzetti; Abdur Rashid; Sanaullah Jan; Alessandra Pia Porretta; L. Keith Henry; Andrea Superti-Furga; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4529.

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

CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa

Vasiliki Kalatzis; Beatrice Bocquet; Caroline Borday; Nejla Erkilic; Daria Mamaeva; Carmen Ayuso; José M. Millán; Carlo Rivolta; Isabelle Meunier; Muriel Perron

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2800.

ARVO Annual Meeting Abstract June 2023

A large-scale genetic analysis of inherited retinal diseases in the Portuguese population identifies a unique pattern of mutations

Karolina Kaminska; Virginie Gisele Peter; Cristina Santos; Mathieu Quinodoz; Francesca Cancellieri; Katarina Cisarova; Rosanna Pescini Gobert; Raquel Rodriguez; Sónia Custódio; Liliana P Paris; Ana Berta Sousa; Luisa Coutinho Santos; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2792.

ARVO Annual Meeting Abstract June 2022

Genetic causes of congenital cataract in consanguineous pedigrees from Pakistan

Mukhtar Ullah; Saba Irshad; Hafiz Muhammad Azhar Baig; Neelam Saba; Sana Gulzar; Sadia Parveen; Ji Hoon Han; Mathieu Quinodoz; Ansar Muhammad; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):486 – A0063.

ARVO Annual Meeting Abstract June 2022

Genetic bases of retinoblastoma from liquid biopsies

Francesca Cancellieri; Virginie G. Peter; Mathieu Quinodoz; Christina Stathopoulos; Francis L. Munier; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):503 – A0080.

ARVO Annual Meeting Abstract June 2020

Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases

Zeinab Ravesh; Arash Salmaninejad; Neda Sepahi; Atta Ur Rehman; Nicola Bedoni; Alireza Pasdar; Mathieu Quinodoz; Virginie Gisèle Peter; Majid Mojarrad; Ali Ghanbari Asad; Mehran Piran; Saman Ghalamkari; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2384.

ARVO Annual Meeting Abstract June 2020

Exploring the genetic landscape of inherited retinal diseases in North-Western Pakistan reveals a high degree of autozygosity and prevalent founder mutations

Atta Ur Rehman; Virginie Gisèle Peter; Mathieu Quinodoz; Abdur Rashid; Syed Akhtar Khan; Andrea Superti-Furga; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2385.

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1

Biallelic mutations in COQ8B ( ADCK4 ) lead to non-syndromic retinitis pigmentosa in multiple families

BMI1-related PRC1 activity as a hub of transcriptional regulation in inherited retinal degeneration

Genetic analysis on inherited retinal diseases in Greece

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Molecular genetic characterization of patients with inherited retinal diseases in Hungary: solving mysteries

Fully Automated Patient-Tailored Microperimetry: FirstOrbit-Study Report

Fine-tuning of therapeutic gene regulation is essential for functional improvement in FAM161A-deficient ciliopathy

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

A feasibility study of a rare variant association test on inherited retinal diseases (IRDs)

Role of PMC (2,2,5,7,8-pentamethyl-6-chromanol), a sterically hindered phenol, in rescuing oxidized low-density lipoprotein (ox-LDL) induced cytotoxicity in human retinal pigment epithelial cells

A missense mutation in SLC6A6 impairs taurine transport and results in Leber congenital amaurosis with short cardiac atrioventricular conduction time

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

CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa

A large-scale genetic analysis of inherited retinal diseases in the Portuguese population identifies a unique pattern of mutations

Genetic causes of congenital cataract in consanguineous pedigrees from Pakistan

Genetic bases of retinoblastoma from liquid biopsies

Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases

Exploring the genetic landscape of inherited retinal diseases in North-Western Pakistan reveals a high degree of autozygosity and prevalent founder mutations

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