Results 21 to 30 of about 417,668 (180)

Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases

Diagnostics, 2023
Adaptive optics (AO) retinal imaging enables individual photoreceptors to be visualized in the clinical setting. AO imaging can be a powerful clinical tool for detecting photoreceptor degeneration at a cellular level that might be overlooked through ...
Helia Ashourizadeh, Maryam Fakhri, Kiana Hassanpour, Ali Masoudi, Sattar Jalali, Danial Roshandel, Fred K. Chen   +6 more
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Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B., Rizzi, M, Nishiguchi, KM, James W. B. Bainbridge, Kate Powell, Joana Ribeiro, Duran, Y, Ribeiro, J, Powell, K, Luhmann, UF, Azam, Selina A., Yanai Duran, Rizzi, Matteo, Livia S. Carvalho, Smith, Alexander J., Holthaus, Sophia Martha Kleine, Robin R. Ali, Ulrich F. O. Luhmann, Carvalho, Livia S., Er J. Smith, Koji M. Nishiguchi, Powell, Kate, Matteo Rizzi, Selina A. Azam, Carvalho, LS, Ali, RR, Holthaus, SM, Sophia-martha Kleine Holthaus, Bainbridge, JW, Ali, Robin R.; id_orcid, Luhmann, Ulrich F.O., Duran, Yanai, Azam, SA, Ribeiro, Joana, Smith, AJ, Nishiguchi, Koji M.   +35 more
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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

npj Genomic Medicine, 2023
This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients.
Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela   +33 more
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Inherited Macular Dystrophies in a Tertiary Care Centre

Journal of Nepal Health Research Council, 2020
Background: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life.
Priyanka Shrestha, Eli Pradhan, Pranil Man Singh Pradhan, Raba Thapa, Sanyam Bajimaya, Sanjita Sharma, Sushma Duwal, Govinda Paudyal   +7 more
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Low Vision Rehabilitation in Patients with Hereditary Retinal Dystrophy [PDF]

, 2015
Objectives: To examine the methods of low vision rehabilitation in patients with hereditary retinal dystrophy. Materials and Methods: This study was conducted in Ankara University Faculty of Medicine, Ophthalmology Department of Low Vision ...
Aysun İdil Merdoğan, İkbal Seza Petriçli, Zuhal Özen Tunay, Özdemir Özdemir   +3 more
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Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Italian Journal of Pediatrics, 2019
Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, Raffaele Falsaperla   +6 more
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The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders

Frontiers in Immunology, 2023
Inherited retinal dystrophies (IRDs) as well as genetically complex retinal phenotypes represent a heterogenous group of ocular diseases, both on account of their phenotypic and genotypic characteristics.
Fabiola Biasella, Karolina Plössl, Paul N. Baird, Paul N. Baird, Bernhard H. F. Weber, Bernhard H. F. Weber   +5 more
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Early stages of retinal development depend on Sec13 function [PDF]

, 2013
ER-to-Golgi transport of proteins destined for the extracellular space or intracellular compartments depends on the COPII vesicle coat and is constitutive in all translationally active cells.
Feng, Yi, Schmidt, Katy, Stephens, David J, Yi Feng, Katy Schmidt, David J. Stephens, Florencia Cavodeassi, Cavodeassi, Florencia   +7 more
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Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes

Diagnostics, 2023
(1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists.
Tien-En Tan, Rachael Wei Chao Tang, Choi Mun Chan, Ranjana S. Mathur, Beau J. Fenner   +4 more
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Late-Onset Retinal Degeneration: Clinical Perspectives

Clinical Ophthalmology, 2022
Leonardo Lando,1,2 Shyamanga Borooah1 1Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA; 2Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, CanadaCorrespondence: Shyamanga Borooah, Shiley Eye ...
Lando L, Borooah S
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