Results 51 to 60 of about 1,104 (159)

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

Clinical and genetic findings in TRPM1‐related congenital stationary night blindness

Acta Ophthalmologica, Volume 100, Issue 6, Page e1332-e1339, September 2022., 2022
ABSTRACT Purpose Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. Biallelic variants altering the protein‐coding region of the TRPM1 gene are one of the commonest causes of CSNB.
Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie M. Ellingford, Christopher Campbell, Stuart Ingram, Kate Chandler, Neil R. A. Parry, Graeme C. Black, Panagiotis I. Sergouniotis   +9 more
wiley   +1 more source

A NovelGUCY2DMutation, V933A, Causes Central Areolar Choroidal Dystrophy

Investigative Opthalmology & Visual Science, 2012
To identify the genetic cause of central areolar choroidal dystrophy (CACD) in a large Northern Irish family.We previously reported linkage of the locus for CACD in this family to an interval of approximately 5 cM on chromosome 17p13 flanked by polymorphic markers D17S1810 and CHLC GATA7B03.
Hughes, Anne E., Meng, Weihua, Lotery, Andrew J., Bradley, Declan T.   +3 more
openaire   +4 more sources

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations

American Journal of Ophthalmology, 2017
To determine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D gene.Retrospective observational case series.Twenty-eight patients with GUCY2D-LCA (aged 2-59 years) were studied clinically and with chromatic full-field sensitivity testing (FST), optical coherence tomography (OCT ...
Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania ( host institution ), Jacobson, Samuel G. ( author ), Cideciyan, Artur V. ( author ), Sumaroka, Alexander ( author ), Roman, Alejandro J. ( author ), Charng, Jason ( author ), Lu, Monica ( author ), Choudhury, Shreyasi ( UF author ), Schwartz, Sharon B. ( author ), Heon, Elise ( author ), Fishman, Gerald A. ( author ), Boye, Shannon E. ( UF author )   +11 more
openaire   +4 more sources

Preclinical studies in support of phase I/II clinical trials to treat GUCY2D-associated Leber congenital amaurosis

Molecular Therapy: Methods & Clinical Development, 2023
Mutations in GUCY2D are associated with severe early-onset retinal dystrophy, Leber congenital amaurosis type 1 (LCA1), a leading cause of blindness in children.
Sanford L. Boye, Catherine O’Riordan, James Morris, Michael Lukason, David Compton, Rena Baek, Dana M. Elmore, James.J. Peterson, Diego Fajardo, K. Tyler McCullough, Abraham Scaria, Alison McVie-Wylie, Shannon E. Boye   +12 more
doaj  

Insights gained from gene therapy in animal models of retGC1 deficiency

Frontiers in Molecular Neuroscience, 2014
Vertebrate species possess two retinal guanylate cyclases (retGC1 and retGC2) and at least two guanylate cyclase activating proteins (GCAPs), GCAP1 and GCAP2. GCAPs function as Ca2+ sensors that regulate the activity of guanylate cyclases.
Shannon Elizabeth Boye
doaj   +1 more source

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis

BMC Ophthalmology, 2022
Background Inherited retinal degenerations (IRDs) affect daylight and night vision to different degrees. In the current work, we devise a method to quantify mobility under dark-adapted conditions in patients with severe childhood blindness due to Leber ...
Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson   +6 more
doaj   +1 more source

New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration [PDF]

Archives of Ophthalmology, 2008
To clinically characterize the retinal abnormalities and identify the mutation causing an autosomal dominant cone degeneration in an African American family.Clinical characterization of family members using fundus photography, fluorescein angiography, and electrophysiological testing.
Nitin Udar, Eddy V. Nguyen, John R. Heckenlively, Rosamaria Silva-Garcia, Kent W. Small   +4 more
openaire   +3 more sources

Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. [PDF]

PLoS ONE, 2010
Recessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d encodes guanylate cyclase (GC1) is expressed in photoreceptor outer segment membranes and produces cGMP in these cells.
Shannon E Boye, Sanford L Boye, Jijing Pang, Renee Ryals, Drew Everhart, Yumiko Umino, Andy W Neeley, Joseph Besharse, Robert Barlow, William W Hauswirth   +9 more
doaj   +1 more source

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj