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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 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 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.

ARVO Annual Meeting Abstract June 2020

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume OLIVIER; Beatrice BOCQUET; Carlo Rivolta; Ervann Andreo; Agnes Muller; Christian Hamel; Alice MASUREL; Catherine P Creuzot Garcher; Laurence FAIVRE; Isabelle Anne Meunier; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2401.

ARVO Annual Meeting Abstract June 2020

Bmi1 loss delays retinal degeneration by decreasing H3K27me3 accumulation, cGMP level and cell stress response

Adeline Berger; Mathieu Quinodoz; Xavier GERARD; Martial Mbefo; Carlo Rivolta; Yvan Arsenijevic

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4994.

ARVO Annual Meeting Abstract July 2019

Pharmacological antagonism of mineralocorticoid receptor exerts VEGF-independent anti-angiogenic effects: Implication for wet AMD

Francine F Behar-Cohen; Irmela Mantel; Emmanuelle Gelize; Carlo Rivolta; Jérémie Ganonica; Frederic Jaisser; Min Zhao

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):975.

ARVO Annual Meeting Abstract July 2019

Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases

Mor Hanany; Segev Meyer; Carlo Rivolta; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):407.

ARVO Annual Meeting Abstract July 2019

The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands

Virginie Gisèle Peter; Mathieu Quinodoz; Jorge Pinto-Basto; Sergio De Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo Silva; Elizabeth Engle; Noriko Miyake; Naomichi Matsumoto; Sheila Unger; Frederic Shapiro; Belinda Campos-Xavier; Andrea Superti-Furga; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):411.

ARVO Annual Meeting Abstract July 2019

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):426.

ARVO Annual Meeting Abstract July 2019

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

Marta del Pozo Valero; Inmaculada Martin Merida; Belen Jimenez Rolando; Ana Arteche; Almudena Avila Fernandez; Fiona Blanco Kelly; Rosa Riveiro Alvarez; Caroline Van Cauwenbergh; Elfride De Baere; Carlo Rivolta; Blanca Garcia Sandoval; Marta Corton; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4926.

ARVO Annual Meeting Abstract July 2019

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss.

Giulia Ascari; Frank Peelman; Nina Lambrechts; Thalia Van Laethem; Toon Rosseel; Pietro Farinelli; David Creytens; Irina Balikova; Jan Gerris; Claus Bachert; Carlo Rivolta; Sophie Walraedt; Bart P Leroy; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4951.

Anatomy and Pathology/Oncology June 2019

Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition

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Ikram El Zaoui; Maya Bucher; Donata Rimoldi; Michael Nicolas; Gurkan Kaya; Rosanna Pescini Gobert; Nicola Bedoni; Ann Schalenbourg; Ezziat Sakina; Leonidas Zografos; Serge Leyvraz; Nicolo Riggi; Carlo Rivolta; Alexandre P. Moulin
TAGS: 1-phosphatidylinositol 3-kinase, malignant melanoma of conjunctiva, mitogen-activated protein kinases, molecular targeted therapy, mtor serine-threonine kinases, phosphoinositide 3-kinase, braf gene, proto-oncogene proteins c-akt, melanoma, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(7):2764-2772. https://doi.org/10.1167/iovs.18-26508

Includes: Supplemental Content

Genetics March 2019

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

PDF

Sanne K. Verbakel; Ramon A. C. van Huet; Anneke I. den Hollander; Maartje J. Geerlings; Eveline Kersten; B. Jeroen Klevering; Caroline C. W. Klaver; Astrid S. Plomp; Nieneke L. Wesseling; Arthur A. B. Bergen; Konstantinos Nikopoulos; Carlo Rivolta; Yasuhiro Ikeda; Koh-Hei Sonoda; Yuko Wada; Camiel J. F. Boon; Toru Nakazawa; Carel B. Hoyng; Koji M. Nishiguchi
TAGS: age-related macular degeneration, genes, macular dystrophy, mutation, retinitis pigmentosa, phenotype, family, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(4):1192-1203. https://doi.org/10.1167/iovs.18-26084

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

A rare chromosomal rearrangement in the X-linked opsin gene array is associated with retinal degeneration

Atta Ur Rehman; Quy Ai Ngo; Inmaculada Martin-Merida; Blanca Garcia-Sandoval; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5407.

ARVO Annual Meeting Abstract July 2018

A heterozygous deletion of a noncoding part of the PRPF31 gene causes retinitis pigmentosa via reduced gene expression

Francesco Paolo Ruberto; Sara Balzano; Adva Kimchi; Prasanthi Namburi; Tamar Ben-Yosef; Eyal Banin; Dror Sharon; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5421.

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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

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

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

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Bmi1 loss delays retinal degeneration by decreasing H3K27me3 accumulation, cGMP level and cell stress response

Pharmacological antagonism of mineralocorticoid receptor exerts VEGF-independent anti-angiogenic effects: Implication for wet AMD

Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases

The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss.

Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

A rare chromosomal rearrangement in the X-linked opsin gene array is associated with retinal degeneration

A heterozygous deletion of a noncoding part of the PRPF31 gene causes retinitis pigmentosa via reduced gene expression

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