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Clinical Ophthalmology Volume 15, 2021 - Issue
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Original Research

Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies

Rosa M Coco-Martin1 Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, Spain;2 Red Temática de Investigación Cooperativa en Salud de Oftalmologia (Oftared), Instituto de Salud Carlos III, Madrid, SpainCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-1811-1417View further author information
ORCID Icon,
Miguel Diego-Alonso1 Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, Spain;3 Department of Ophthalmology, Hospital Universitario Río Hortega, Valladolid, SpainORCID Iconhttps://orcid.org/0000-0002-5917-5564View further author information
ORCID Icon,
W Andres Orduz-Montaña1 Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, SpainView further author information
,
M Rosa Sanabria1 Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, Spain;4 Department of Ophthalmology, Complejo Hospitalario De Palencia, Palencia, SpainView further author information
&
Hortensia Sanchez-Tocino1 Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, Spain;3 Department of Ophthalmology, Hospital Universitario Río Hortega, Valladolid, SpainView further author information
Pages 1075-1084 | Published online: 09 Mar 2021

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Alexis Ceecee Britten-Jones, Demi Markakis, Robyn H. Guymer, Ming-Lee Lin, Simon Skalicky, Lauren N. Ayton & Heather G. Mack. (2023) Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit. Annals of Medicine 55:2.
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Sena A Gocuk, Yuanzhang Jiao, Alexis Ceecee Britten-Jones, Nathan M Kerr, Lyndell Lim, Simon Skalicky, Richard Stawell, Lauren N Ayton & Heather G Mack. (2022) Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice. Clinical Ophthalmology 16, pages 1127-1138.
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Articles from other publishers (6)

Heather G. Mack, Alexis Ceecee Britten-Jones, Myra B. McGuinness, Fred K. Chen, John R. Grigg, Robyn V. Jamieson, Thomas L. Edwards, John De Roach, Fleur O’Hare, Keith R. Martin & Lauren N. Ayton. (2022) Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia. Gene Therapy 30:3-4, pages 336-346.
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Mostafa Feghhi, Mohammad Ali Moghimi, Ali Kasiri & Fereydoun Farrahi. (2023) Relative frequency of inherited retinal disorders in Khuzestan province, southern Iran. Journal of Advanced Pharmacy Education and Research 13:1, pages 42-45.
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Alexis Ceecee Britten‐Jones, Fleur O'Hare, Thomas L. Edwards & Lauren N. Ayton. (2022) Victorian evolution of inherited retinal diseases natural history registry ( VENTURE study): Rationale, methodology and initial participant characteristics . Clinical & Experimental Ophthalmology 50:7, pages 768-780.
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Malena Daich Varela, Anastasios Georgiadis & Michel Michaelides. (2022) Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes. British Journal of Ophthalmology, pages bjophthalmol-2022-321903.
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Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman & Aniz Girach. (2022) Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. Nature Medicine 28:5, pages 1014-1021.
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Matthew P. Simunovic, Heather G. Mack, Lauren N. Ayton & Mark M. Hassall. 2022. Comprehensive Pharmacology. Comprehensive Pharmacology 662 692 .

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