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Retina June 2024

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

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Francesco Testa; Ester Carreño; L. Ingeborgh van den Born; Paolo Melillo; Irene Perea-Romero; Valentina Di Iorio; Giulia Risca; Clemente Maria Iodice; Ronald J. E. Pennings; Marianthi Karali; Sandro Banfi; Alberto Auricchio; Stefania Galimberti; Carmen Ayuso; Francesca Simonelli
TAGS: cohort studies, disease progression, european continental ancestry group, gene therapy, prospective studies, usher syndrome, eye
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):25. https://doi.org/10.1167/iovs.65.6.25

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

Multicentric longitudinal prospective study in Usher Syndrome due to MYO7A mutations: disease course and implications for gene therapy

Clemente Maria Iodice; Ester Carreño; L. Ingeborgh van den Born; Paolo Melillo; Irene Perea-Romero; Valentina Di Iorio; Giulia Risca; Ronald J.E. Pennings; Marianthi Karali; Sandro Banfi; Alberto Auricchio; Stefania Galimberti; Francesco Testa; Carmen Ayuso; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2136.

ARVO Annual Meeting Abstract June 2023

Prevalence and phenotype-genotype correlation of the c.5603A>T, (p.Asn1868Ile) hypomorphic variant in a large cohort with genetically confirmed ABCA4 retinopathy

Maria Pilar Martin Gutierrez; Inmaculada Martin-Merida; Marta Del Pozo Valero; Lidia Fernandez-Caballero; Ester Carreno; Belen Jimenez-Rolando; Blanca Garcia-Sandoval; Carmen Ayuso

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4510.

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

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

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.

Genetics February 2022

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

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Marta Del Pozo-Valero; Rosa Riveiro-Alvarez; Inmaculada Martin-Merida; Fiona Blanco-Kelly; Saoud Swafiri; Isabel Lorda-Sanchez; Maria José Trujillo-Tiebas; Ester Carreño; Belen Jimenez-Rolando; Blanca Garcia-Sandoval; Marta Corton; Almudena Avila-Fernandez; Carmen Ayuso
TAGS: abca4 gene, family, genes, genetics, high-throughput nucleotide sequencing, macular dystrophy, massively-parallel genome sequencing, spanish, mutation
Invest. Ophthalmol. Vis. Sci.. 2022; 63(2):11. https://doi.org/10.1167/iovs.63.2.11

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Development of in vitro and ex vivo tools for functional characterization of variants of uncertain significance in aniridia

Alejandra Tamayo Duran; María Tarilonte Misas; Jennifer Moya; Patricia Ramos; Saoud Tahsin Swafiri; Fiona Blanco; Carmen Ayuso; Marta Cortón

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1565.

ARVO Annual Meeting Abstract June 2020

Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

Francesco Testa; Ester Carreño; Koen Vermeer; Valentina Di lorio; Belen Jimenez-Rolando; Marianthi Karali; Blanca Garcia Sandoval; Irene Perea Romero; José Millán Salvador; Paolo Melillo; Sandro Banfi; Alberto Auricchio; L. Ingeborgh van den Born; Carmen Ayuso; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1905.

Genetics April 2020

Retinal Structure in RPE65 -Associated Retinal Dystrophy

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Neruban Kumaran; Michalis Georgiou; James W. B. Bainbridge; Mette Bertelsen; Michael Larsen; Fiona Blanco-Kelly; Carmen Ayuso; Hoai Viet Tran; Francis L. Munier; Angelos Kalitzeos; Michel Michaelides
TAGS: retina, retinal dystrophies, rpe65 protein, spectral domain-optical coherence tomography, eye, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):47. https://doi.org/10.1167/iovs.61.4.47

Includes: Supplemental Content

Genetics November 2019

Expanding the Genetic Landscape of Usher-Like Phenotypes

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Carla Fuster-García; Gema García-García; Teresa Jaijo; Fiona Blanco-Kelly; Lifeng Tian; Hakon Hakonarson; Carmen Ayuso; Elena Aller; José M. Millán
TAGS: family, genetics, phenotype, genes, mutation, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2019; 60(14):4701-4710. https://doi.org/10.1167/iovs.19-27470

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Mubeen Khan; Stephanie Cornelis; Marta del Pozo Valero; Muhammad Imran Khan; Heidi Stohr; Felix Grassmann; Marloes Steehouwer; Alexander Hoischen; Carmen Ayuso; Raj Ramesar; Isabelle Anne Meunier; Sabine defoort; Bernhard HF Weber; Claire-Marie Dhaenens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2813.

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 2018

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Gael Manes; Xavier ZANLONGHI; Carmen Ayuso; Graeme Black; Guillaume OLIVIER; Béatrice Bocquet; Audrey Sénéchal; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2322.

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.

Genetics May 2018

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

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Inmaculada Martin-Merida; Domingo Aguilera-Garcia; Patricia Fernandez-San Jose; Fiona Blanco-Kelly; Olga Zurita; Berta Almoguera; Blanca Garcia-Sandoval; Almudena Avila-Fernandez; Ana Arteche; Pablo Minguez; Miguel Carballo; Marta Corton; Carmen Ayuso
TAGS: cohort studies, family, genes, genetic analysis, massively-parallel genome sequencing, retinitis pigmentosa, spanish, copy number polymorphism, mutation, choroidal neovascularization
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2345-2354. https://doi.org/10.1167/iovs.18-23854

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals rare and Hypermorphic Variants in GPATCH3

Julio Escribano; Jesús-José Ferre-Fernández; José-Daniel Aroca-Aguilar; Cristina Medina-Trillo; Juan-Manuel Bonet-Fernández; Carmen Mendez-Hernandez; Laura Morales-Fernández; Marta corton; Maria-Josefa Cabañero-Valera; Raul Tonda; Marta Gut; Carmen Ayuso; Miguel Coca-Prados; Julián García-Feijoo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2123.

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758.

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Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Multicentric longitudinal prospective study in Usher Syndrome due to MYO7A mutations: disease course and implications for gene therapy

Prevalence and phenotype-genotype correlation of the c.5603A>T, (p.Asn1868Ile) hypomorphic variant in a large cohort with genetically confirmed ABCA4 retinopathy

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

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

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

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

Development of in vitro and ex vivo tools for functional characterization of variants of uncertain significance in aniridia

Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

Retinal Structure in RPE65 -Associated Retinal Dystrophy

Expanding the Genetic Landscape of Usher-Like Phenotypes

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

New insights into the phenotypic spectrum of PROM1 -associated retinopathy

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

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

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals rare and Hypermorphic Variants in GPATCH3

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

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