Results 31 to 40 of about 2,008 (179)

Night vision restored in days after decades of congenital blindness

iScience, 2022
Summary: Signaling of vision to the brain starts with the retinal phototransduction cascade which converts visible light from the environment into chemical changes.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Alejandro J. Roman, Vivian Wu, Alexandra V. Garafalo, Alexander Sumaroka, Arun K. Krishnan, Malgorzata Swider, Abraham A. Mascio, Christine N. Kay, Dan Yoon, Kenji P. Fujita, Sanford L. Boye, Igor V. Peshenko, Alexander M. Dizhoor, Shannon E. Boye   +16 more
doaj   +1 more source

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function [PDF]

International Journal of Molecular Sciences, 2021
Gene augmentation therapy is being planned for GUCY2D-associated Leber congenital amaurosis (LCA). To increase our understanding of the natural history of GUCY2D-LCA, patients were evaluated twice with an interval of 4 to 7 years between visits using safety and efficacy outcome measures previously determined to be useful for monitoring this disorder ...
Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Malgorzata Swider, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo   +8 more
openaire   +2 more sources

Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D [PDF]

Progress in Retinal and Eye Research, 2018
The GUCY2D gene encodes for the photoreceptor guanylate cyclase GC-E that synthesizes the intracellular messenger of photoreceptor excitation cGMP and is regulated by intracellular Ca2+-sensor proteins named guanylate cyclase-activating proteins (GCAPs).
Dror Sharon, Hanna Wimberg, Yael Kinarty, Karl-Wilhelm Koch   +3 more
  +7 more sources

Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis [PDF]

European Journal of Human Genetics, 2012
Mutations in retinal-specific guanylate cyclase (Gucy2d) are associated with Leber congenital amaurosis-1 (LCA1). Zebrafish offer unique advantages relative to rodents, including their excellent color vision, precocious retinal development, robust visual testing strategies, low cost, relatively easy transgenesis and shortened experimental times.
Stiebel-Kalish, Hadas, Reich, Ehud, Rainy, Nir, Vatine, Gad, Nisgav, Yael, Tovar, Anna, Gothilf, Yoav, Bach, Michael   +7 more
openaire   +3 more sources

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

American Journal of Ophthalmology, 2023
To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients.Retrospective case series.Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital ...
Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta del Pozo-Valero, Irene Perea-Romero, Saoud Tahsin Swafiri, Olga Zurita, Cristina Villaverde, Miguel Ángel López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Corton   +21 more
openaire   +2 more sources

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients. [PDF]

PLoS ONE, 2013
BACKGROUND: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy ...
Anshuman Verma, Vijayalakshmi Perumalsamy, Shashikant Shetty, Maigi Kulm, Periasamy Sundaresan   +4 more
doaj   +1 more source

Assessing Photoreceptor Structure Associated with Ellipsoid Zone Disruptions Visualized with Optical Coherence Tomography [PDF]

, 2016
Purpose: To compare images of photoreceptor layer disruptions obtained with optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO) in a variety of pathologic states.Methods: Five subjects with photoreceptor ellipsoid
Carroll, Joseph, Cooper, Robert F., Dubra, Alfredo, Flatter, John A., Han, Dennis P., Langlo, Christopher S., Neitz, Maureen, Pennesi, Mark E., Robison, Scott, Scoles, Drew, Weinberg, David V.   +10 more
core   +2 more sources

New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy—Beyond Classical Gene Candidates

Frontiers in Genetics, 2022
Central areolar choroidal dystrophy (CACD) is a rare hereditary disease that mainly affects the macula, resulting in progressive and usually profound visual loss.
João Paulo Kazmierczak de Camargo, Giovanna Nazaré de Barros Prezia, Naoye Shiokawa, Mario Teruo Sato, Mario Teruo Sato, Roberto Rosati, Angelica Beate Winter Boldt   +6 more
doaj   +1 more source

Leber Congenital Amaurosis Caused by Mutations in GUCY2D [PDF]

Cold Spring Harbor Perspectives in Medicine, 2014
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous group of diseases that account for the most severe form of early-onset retinal dystrophy. Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form.
openaire   +2 more sources

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance [PDF]

Human Mutation, 2003
Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our "unaffected" recombinant individual from family 1175 was subsequently found to cross through this interval ...
Nitin, Udar, Svetlana, Yelchits, Meenal, Chalukya, Vivek, Yellore, Steve, Nusinowitz, Rosamaria, Silva-Garcia, Tamara, Vrabec, Irene, Hussles Maumenee, Larry, Donoso, Kent W, Small   +9 more
openaire   +2 more sources