Results 21 to 30 of about 19,769 (229)

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 ...
openaire   +3 more sources

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. [PDF]

, 2016
Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence
Colavito, Davide, Leon, Alberta, Miotto, Stefania, Piermarocchi, Stefano, Segato, Tatiana   +4 more
core   +1 more source

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. [PDF]

Am J Ophthalmol, 2019
Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.   +21 more
europepmc   +2 more sources

Updating the Genetic Landscape of Inherited Retinal Dystrophies [PDF]

Frontiers in Cell and Developmental Biology, 2021
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosis very difficult. The recent advent of next generation sequencing has greatly facilitated the diagnostic
Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán   +13 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
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.
openaire   +2 more sources

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
doaj   +1 more source

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
core   +3 more sources

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
openaire   +2 more sources

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
doaj   +1 more source