Results 91 to 100 of about 5,980 (178)

Exploring Molecular Pathways in Refractive Errors Associated with Inherited Retinal Dystrophies

Frontiers in Bioscience-Landmark
The term inherited retinal dystrophies (IRDs) refers to a diverse range of conditions characterized by retinal dysfunction, and mostly deterioration, leading to a gradual decay of the visual function and eventually to total vision loss.
Fabiana D’Esposito, Caterina Gagliano, Alessandro Avitabile, Giuseppe Gagliano, Mutali Musa, Matteo Capobianco, Federico Visalli, Edoardo Dammino, Marco Zeppieri, Maria Francesca Cordeiro   +9 more
doaj   +1 more source

State-of-the-art gene therapy for inherited retinal disorders

Клиническая офтальмология
O.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj  

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

Human Genomics
Background Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic ...
Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M. Millán, Gema García-García   +8 more
doaj   +1 more source

[Gene therapy for inherited retinal dystrophies].

Arquivos brasileiros de oftalmologia, 2010
The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment epithelium.
Monique, Côco, Sang Won, Han, Juliana Maria Ferraz, Sallum   +2 more
openaire   +1 more source

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

JCI Insight
Hereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage.
Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio, Jason Charish, Minggao Liang, Simon Monis, Anupreet Tumber, Xiaoyan Chen, Tara A. Paton, Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny, Michael D. Wilson, Eric Campos, Raju V.S. Rajala, Jason T. Maynes, Philippe P. Monnier, Andrew D. Paterson, Elise Héon, Ajoy Vincent   +22 more
doaj   +1 more source

Editorial: Inherited retinal dystrophies: a light at the end of the tunnel? [PDF]

Front Cell Dev Biol, 2023
Perkins BD, Lobo GP, Kondkar AA, Millan JM.   +3 more
europepmc   +1 more source

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations

, 2010
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core  

Nanocarrier-based CircRNA therapeutics in inherited retinal dystrophies. [PDF]

Ann Med Surg (Lond)
Habib E, Hajj F.
europepmc   +1 more source

Exosome-based therapeutics: emerging extracellular vesicle platforms for targeted delivery in inherited retinal dystrophies and beyond. [PDF]

Ann Med Surg (Lond)
Khan SA, Ali T, Hameed A, Tahir A, Qamar MA.   +4 more
europepmc   +1 more source

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases

, 2019
International audiencePurpose : To determine the prevalence and types of syndromic diseases reported in a national reference centre specialized in inherited sensory disorders.Methods : The clinical and genetic database comprising 4267 families was ...
Roubertie, Agathe, Defoort-Dhellemmes, Sabine, Willems, Marjorlaine, Lemattre, Camille, Bocquet, Béatrice, Meunier, Isabelle, Blanchet, Patricia, Kalatzis, Vasiliki, Blanchet, Catherine, Geneviève, David   +9 more
core