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ARVO Annual Meeting Abstract June 2023

Visual cortical reorganization of early retinotopic maps in Retinitis Pigmentosa

Miguel Castelo-Branco; Joana Sampaio; Sónia Ferreira; Eduardo Silva; Otília d’Almeida

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1470.

Genetics October 2020

SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

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Terri L. Young; Kristina N. Whisenhunt; Jing Jin; Sarah M. LaMartina; Sean M. Martin; Tomokazu Souma; Vachiranee Limviphuvadh; Fatemeh Suri; Emmanuelle Souzeau; Xue Zhang; Yongwook Dan; Evie Anagnos; Susana Carmona; Nicole M. Jody; Nickie Stangel; Emily C. Higuchi; Samuel J. Huang; Owen M. Siggs; Maria José Simões; Brendan M. Lawson; Jacob S. Martin; Elahe Elahi; Mehrnaz Narooie-Nejad; Behzad Fallahi Motlagh; Susan E. Quaggin; Heather D. Potter; Eduardo D. Silva; Jamie E. Craig; Conceição Egas; Reza Maroofian; Sebastian Maurer-Stroh; Yasmin S. Bradfield; Stuart W. Tompson
TAGS: family, genetics, glaucoma, glaucoma, congenital, mice, pathology, eye, body tissue, alleles, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):6. https://doi.org/10.1167/iovs.61.12.6

Includes: Supplemental Content

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 April 2014

Functional and Structural Organization of Human Visual Cortex in Retinitis Pigmentosa

Sonia Ferreira; Andreia C. Pereira; Bruno Quendera; Catarina Mateus; Aldina Reis; Maria do Rosário Almeida; Eduardo Silva; Miguel Castelo-Branco; Visual Neuroscience Laboratory

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):2171.

ARVO Annual Meeting Abstract April 2014

Patterns of Visual Cortical Responses Across Multiple Spatiotemporal Channels in Clinical and Pre-Clinical Models of Inherited Optic Neuropathies

Aldina A Reis; Catarina Mateus; João Castelhano; Eduardo Silva; Miguel Castelo-Branco

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4124.

ARVO Annual Meeting Abstract June 2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Eduardo Silva; Arnold Munnich; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3363.

ARVO Annual Meeting Abstract March 2012

Antisense Oligonucleotide-mediated Exon Skipping Improves Primary Cilia Assembly In Fibroblasts Harbouring The Common Lca Cep290 C.2991+1655g>A Mutation

Jean-Michel Rozet; Xavier Gerard; Isabelle Perrault; Eduardo Silva; Karine Bigot; Sabine Defoort-Delhemmes; Arnold Munnich; Daniel Scherman; Antoine Kichler; Josseline Kaplan

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1920.

ARVO Annual Meeting Abstract March 2012

Cortical Impact of Genetic Retinal Degeneration of Ganglion Cell Origin and With Early Visual Loss

Catarina A. Mateus; Aldina A. Reis; Joao Castelhano; Eduardo Silva; Miguel Castelo-Branco

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5693.

ARVO Annual Meeting Abstract March 2012

Phenotypic Characterization in Two Patients with Identified Rhodopsin Gene Mutation: Impact of Retinal Degeneration on Cortical Structure

Andreia C. Pereira; Catarina Mateus; Aldina Reis; Bruno Quendera; Sonia Ferreira; Maria do Rosario Almeida; Eduardo Silva; Miguel Castelo-Branco

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5694.

ARVO Annual Meeting Abstract March 2012

Visual Impairment in Leber Hereditary Optic Neuropathy Carriers of the Same Pedigree

Aldina A. Reis; Catarina Mateus; Eduardo Silva; Miguel Castelo-Branco

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5699.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology January 2012

Abnormal Achromatic and Chromatic Contrast Sensitivity in Neurofibromatosis Type 1

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Maria José Ribeiro; Inês Ribeiro Violante; Inês Bernardino; Fabiana Ramos; Jorge Saraiva; Pablo Reviriego; Meena Upadhyaya; Eduardo Duarte Silva; Miguel Castelo-Branco
TAGS: contrast sensitivity, neurofibromatoses, neurofibromatosis 1
Invest. Ophthalmol. Vis. Sci.. 2012; 53(1):287-293. https://doi.org/10.1167/iovs.11-8225

ARVO Annual Meeting Abstract April 2011

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Jean-Michel Rozet; Remi Salomon; Nathalie Delphin; Eduardo D. Silva; Helene Dollfus; Christian P. Hamel; Arnold Munnich; Sophie Saunier; Josseline Kaplan; Isabelle Perrault

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5368.

Retina December 2008

Retinal Function in Best Macular Dystrophy: Relationship between Electrophysiological, Psychophysical, and Structural Measures of Damage

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Susana Maia-Lopes; Eduardo Duarte Silva; Aldina Reis; Maria Fátima Silva; Catarina Mateus; Miguel Castelo-Branco
TAGS: contrast sensitivity, psychophysics, vitelliform dystrophy, disease progression, retina, illness length
Invest. Ophthalmol. Vis. Sci.. 2008; 49(12):5553-5560. https://doi.org/10.1167/iovs.08-2093

Retina March 2008

Evidence of Widespread Retinal Dysfunction in Patients with Stargardt Disease and Morphologically Unaffected Carrier Relatives

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Susana Maia-Lopes; Eduardo D. Silva; Maria Fátima Silva; Aldina Reis; Pedro Faria; Miguel Castelo-Branco
TAGS: pathophysiology, psychophysics, stargardt's disease, family, mutation, color
Invest. Ophthalmol. Vis. Sci.. 2008; 49(3):1191-1199. https://doi.org/10.1167/iovs.07-1051

Biochemistry and Molecular Biology July 2000

A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype

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Eduardo Silva; Jun-Ming Yang; Yingying Li; Sharola Dharmaraj; Olof H. Sundin; Irene H. Maumenee
TAGS: leber's amaurosis, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2000; 41(8):2076-2079.

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Visual cortical reorganization of early retinotopic maps in Retinitis Pigmentosa

SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

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

Functional and Structural Organization of Human Visual Cortex in Retinitis Pigmentosa

Patterns of Visual Cortical Responses Across Multiple Spatiotemporal Channels in Clinical and Pre-Clinical Models of Inherited Optic Neuropathies

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Antisense Oligonucleotide-mediated Exon Skipping Improves Primary Cilia Assembly In Fibroblasts Harbouring The Common Lca Cep290 C.2991+1655g>A Mutation

Cortical Impact of Genetic Retinal Degeneration of Ganglion Cell Origin and With Early Visual Loss

Phenotypic Characterization in Two Patients with Identified Rhodopsin Gene Mutation: Impact of Retinal Degeneration on Cortical Structure

Visual Impairment in Leber Hereditary Optic Neuropathy Carriers of the Same Pedigree

Abnormal Achromatic and Chromatic Contrast Sensitivity in Neurofibromatosis Type 1

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Retinal Function in Best Macular Dystrophy: Relationship between Electrophysiological, Psychophysical, and Structural Measures of Damage

Evidence of Widespread Retinal Dysfunction in Patients with Stargardt Disease and Morphologically Unaffected Carrier Relatives

A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype

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