Results 21 to 30 of about 9,124 (223)

Inherited retinal dystrophies [PDF]

Paediatrics and Child Health, 2020
Abstract Inherited retinal dystrophies (IRD) are a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. Symptoms include loss of night vision, visual field, colour, and central acuity. Sophisticated imaging modalities and electrophysiology permit genotype–phenotype correlations.
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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
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CRB1 mutations in inherited retinal dystrophies [PDF]

Human Mutation, 2011
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar ...
Bujakowska, Kinga, Audo, Isabelle, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Léveillard, Thierry, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi, Zeitz, Christina   +13 more
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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
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Zebrafish models of inherited retinal dystrophies

Journal of Translational Genetics and Genomics, 2022
Inherited retinal degenerations (IRDs) cause permanent vision impairment or vision loss due to the death of rod and cone photoreceptors. Animal models of IRDs have been instrumental in providing knowledge of the pathological mechanisms that cause photoreceptor death and in developing successful approaches that could slow or prevent vision loss ...
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
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Light-induced charge generation in polymeric nanoparticles restores vision in advanced-stage retinitis pigmentosa rats

Nature Communications, 2022
Retinal dystrophies such as Retinitis pigmentosa are among the most prevalent causes of inherited incurable legal blindness. Here the authors demonstrate that conjugated polymer nanoparticles reinstate visual functions in aged rats with fully degenerated
S. Francia, D. Shmal, S. Di Marco, G. Chiaravalli, J. F. Maya-Vetencourt, G. Mantero, C. Michetti, S. Cupini, G. Manfredi, M. L. DiFrancesco, A. Rocchi, S. Perotto, M. Attanasio, R. Sacco, S. Bisti, M. Mete, G. Pertile, G. Lanzani, E. Colombo, F. Benfenati   +19 more
doaj   +1 more source

microRNAs and inherited retinal dystrophies [PDF]

Proceedings of the National Academy of Sciences, 2015
Inherited retinal dystrophies (IRD) are a heterogeneous group of blinding diseases that affect more than 200,000 Americans and millions worldwide (1). Identification of genes that are responsible for IRD when defective is of great importance to the basic understanding as well as development of efficient gene diagnosis and treatment.
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Inherited retinal dystrophy and asymmetric axial length [PDF]

British Journal of Ophthalmology, 2003
The prenatal and postnatal development of the eye is determined by complex interactions between a number of genes, their products, and certain environmental factors.1,2 Since each eye is influenced by precisely the same processes as its fellow, mutations in regulatory genes usually lead to symmetric phenotypes.
P, Francis, A G, Robson, G, Holder, A, Moore, P, Francis, A, Moore, S, Kaushal   +6 more
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Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 [PDF]

, 2018
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.
Bertelsen, Mette, Collin, Rob W. J., Coppieters, Frauke, De Zaeytijd, Julie, Hoyng, Carel B, Klaver, Caroline CW, Kroes, Hester Y, Leroy, Bart, Lorenz, Birgit, Pott, Jan-Willem R, Preising, Markus, Thiadens, Alberta AHJ, Valkenburg, Dyon, Van Cauwenbergh, Caroline, van den Born, L. Ingeborgh, van Genderen, Mies M, van Schooneveld, Mary J   +16 more
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