Search Results - "Robson, Anthony G."

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms by Zeitz, Christina, Robson, Anthony G., Audo, Isabelle

“…Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with…”
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ISCEV Standard for full-field clinical electroretinography (2022 update) by Robson, Anthony G., Frishman, Laura J., Grigg, John, Hamilton, Ruth, Jeffrey, Brett G., Kondo, Mineo, Li, Shiying, McCulloch, Daphne L.

“…The full-field electroretinogram (ERG) is a mass electrophysiological response to diffuse flashes of light and is used widely to assess generalized retinal…”
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Phase 1 clinical study of an embryonic stem cell–derived retinal pigment epithelium patch in age-related macular degeneration by da Cruz, Lyndon, Fynes, Kate, Georgiadis, Odysseas, Kerby, Julie, Luo, Yvonne H, Ahmado, Ahmad, Vernon, Amanda, Daniels, Julie T, Nommiste, Britta, Hasan, Shazeen M, Gooljar, Sakina B, Carr, Amanda-Jayne F, Vugler, Anthony, Ramsden, Conor M, Bictash, Magda, Fenster, Mike, Steer, Juliette, Harbinson, Tricia, Wilbrey, Anna, Tufail, Adnan, Feng, Gang, Whitlock, Mark, Robson, Anthony G, Holder, Graham E, Sagoo, Mandeep S, Loudon, Peter T, Whiting, Paul, Coffey, Peter J

“…An engineered patch of retinal pigment epithelium generated from human embryonic stem cells is transplanted into the eyes of two patients. Age-related macular…”
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The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies by De Silva, Samantha R., Arno, Gavin, Robson, Anthony G., Fakin, Ana, Pontikos, Nikolas, Mohamed, Moin D., Bird, Alan C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.

“…X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without…”
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Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration by Mehat, Manjit S., Sundaram, Venki, Ripamonti, Caterina, Robson, Anthony G., Smith, Alexander J., Borooah, Shyamanga, Robinson, Martha, Rosenthal, Adam N., Innes, William, Weleber, Richard G., Lee, Richard W.J., Crossland, Michael, Rubin, Gary S., Dhillon, Baljean, Steel, David H.W., Anglade, Eddy, Lanza, Robert P., Ali, Robin R., Michaelides, Michel, Bainbridge, James W.B.

“…Transplantation of human embryonic stem cell (hESC)-derived retinal pigment epithelial (RPE) cells offers the potential for benefit in macular degeneration…”
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ISCEV standard for clinical multifocal electroretinography (mfERG) (2021 update) by Hoffmann, Michael B., Bach, Michael, Kondo, Mineo, Li, Shiying, Walker, Sinead, Holopigian, Karen, Viswanathan, Suresh, Robson, Anthony G.

“…The multifocal electroretinogram (mfERG) is an electrophysiological test that allows the function of multiple discrete areas of the retina to be tested…”
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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease by Fujinami, Kaoru, MD, Zernant, Jana, MS, Chana, Ravinder K., BSc, Wright, Genevieve A., BSc, Tsunoda, Kazushige, MD, PhD, Ozawa, Yoko, MD, PhD, Tsubota, Kazuo, MD, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Allikmets, Rando, PhD, Michaelides, Michel, MD, FRCOphth, Moore, Anthony T., FRCS, FRCOphth

“…Purpose To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD). Design Retrospective case series…”
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ISCEV Standard for clinical electro-oculography (2017 update) by Constable, Paul A., Bach, Michael, Frishman, Laura J., Jeffrey, Brett G., Robson, Anthony G.

“…The clinical electro-oculogram (EOG) is an electrophysiological test of the outer retina and retinal pigment epithelium (RPE) in which changes in the…”
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GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies by Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel

“…To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in…”
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CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History by Daich Varela, Malena, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A., Robson, Anthony G., Webster, Andrew R., AlTalbishi, Alaa, Michaelides, Michel

“…To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. Multicenter international retrospective cohort…”
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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy by Khan, Kamron N., Kasilian, Melissa, Mahroo, Omar A.R., Tanna, Preena, Kalitzeos, Angelos, Robson, Anthony G., Tsunoda, Kazushige, Iwata, Takeshi, Moore, Anthony T., Fujinami, Kaoru, Michaelides, Michel

“…To describe the earliest features of ABCA4-associated retinopathy. Case series. Children with a clinical and molecular diagnosis of ABCA4-associated…”
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Typical best vitelliform dystrophy secondary to biallelic variants in BEST1 by Dhoble, Pankaja, Robson, Anthony G, Webster, Andrew R, Michaelides, Michel

“…Pathogenic variants in can cause autosomal dominant or autosomal recessive dystrophy, typically associated with distinct retinal phenotypes. In heterozygous…”
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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy by Halford, Stephanie, PhD, Liew, Gerald, PhD, Mackay, Donna S., PhD, Sergouniotis, Panagiotis I., PhD, Holt, Richard, DPhil, Broadgate, Suzanne, PhD, Volpi, Emanuela V., PhD, Ocaka, Louise, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Moore, Anthony T., MD, Michaelides, Michel, MD, Webster, Andrew R., MD

“…Objective To provide a detailed phenotype/genotype characterization of Bietti crystalline dystrophy (BCD). Design Observational case series. Participants…”
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Investigating the potential of Zernike polynomials to characterise spatial distribution of macular pigment by Allen, Piers, Calcagni, Antonio, Robson, Anthony G, Claridge, Ela

“…It has been postulated that particular patterns of macular pigment (MP) distribution may be associated with the risk for eye diseases such as age-related…”
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The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients by Fujinami, Kaoru, MD, Sergouniotis, Panagiotis I., MD, Davidson, Alice E., PhD, Mackay, Donna S., PhD, Tsunoda, Kazushige, MD, Tsubota, Kazuo, MD, Robson, Anthony G., PhD, Holder, Graham E., MD, Moore, Anthony T., MD, Michaelides, Michel, MD, Webster, Andrew R., MD

“…Purpose To describe the phenotypic presentation of a cohort of individuals with homozygous disease-associated ABCA4 variants. Design Retrospective case series…”
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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations by Fujinami, Kaoru, Lois, Noemi, Davidson, Alice E, Mackay, Donna S, Hogg, Chris R, Stone, Edwin M, Tsunoda, Kazushige, Tsubota, Kazuo, Bunce, Catey, Robson, Anthony G, Moore, Anthony T, Webster, Andrew R, Holder, Graham E, Michaelides, Michel

“…Purpose To investigate the clinical and electrophysiologic natural history of Stargardt disease and correlate with the genotype. Design Cohort study of 59…”
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Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration by Ku, Cristy A, Hull, Sarah, Arno, Gavin, Vincent, Ajoy, Carss, Keren, Kayton, Robert, Weeks, Douglas, Anderson, Glenn W, Geraets, Ryan, Parker, Camille, Pearce, David A, Michaelides, Michel, MacLaren, Robert E, Robson, Anthony G, Holder, Graham E, Heon, Elise, Raymond, F Lucy, Moore, Anthony T, Webster, Andrew R, Pennesi, Mark E

“…Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations…”
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The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients by Fakin, Ana, Robson, Anthony G, Chiang, John Pei-Wen, Fujinami, Kaoru, Moore, Anthony T, Michaelides, Michel, Holder, Graham E, Webster, Andrew R

“…To determine the effect of 15 individual ABCA4 mutations on disease severity. Eighty-two patients harboring 15 distinct ABCA4 mutations in trans with null…”
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ISCEV extended protocol for the stimulus–response series for light-adapted full-field ERG by McCulloch, Daphne L., Kondo, Mineo, Hamilton, Ruth, Lachapelle, Pierre, Messias, André M. V., Robson, Anthony G., Ueno, Shinji

“…The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum protocol for…”
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ISCEV extended protocol for the stimulus–response series for the dark-adapted full-field ERG b-wave by Johnson, Mary A., Jeffrey, Brett G., Messias, André M. V., Robson, Anthony G.

“…The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum protocol for…”
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