Results 191 to 200 of about 9,124 (223)

Mechanism of retinal ganglion cell loss in inherited retinal dystrophy

NeuroReport, 1996
To study the inner retinal layers in RCS rats, which suffer major loss of retinal photoreceptors during the first 3 months of life, retinal ganglion cells (RGC) were labelled with fluorogold and their axons were immunoreacted with an antibody against neurofilaments.
M P, Villegas-Pérez, M, Vidal-Sanz, R D, Lund   +2 more
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Inherited Retinal Dystrophy in Mer Knockout Mice

2003
Abnormalities of the retinal pigment epithelial (RPE) cells are seen in several inherited degenerations such as Best disease (Petrukhin et al., 1998; Marmorstein et al., 2000), Stargardt disease (Weng et al., 1999), Sorsby’s fundus dystrophy (Steinmetz et al., 1992; Jacobson et al., 1995), and childhood-onset severe retinal dystrophy (Gu et al., 1997 ...
Jacque L, Duncan, Haidong, Yang, Douglas, Vollrath, Douglas, Yasumura, Michael T, Matthes, Nikolaus, Trautmann, Aimee V, Chappelow, Wei, Feng, H Shelton, Earp, Glenn K, Matsushima, Matthew M, LaVail   +10 more
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Early Visual Symptom Patterns in Inherited Retinal Dystrophies

Ophthalmologica, 2011
The present retrospective study compared initial visual symptom patterns in inherited retinal dystrophies (IRD) on the basis of records of 544 patients diagnosed with a wide variety of IRD at the Tuebingen University Eye Hospital from 2005 to 2008. Age at first onset of symptoms was noted, and the following clinical data were analyzed: visual acuity ...
Elena, Prokofyeva, Eric, Troeger, Robert, Wilke, Eberhart, Zrenner   +3 more
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Inherited Retinal Pigmentary Degenerations and Inherited Macular Dystrophies

2012
Progressive macular or generalized retinal degeneration occur as a result of a wide variety of hereditary disorders. Depending on the gene affected, there is a wide spectrum of conditions with diverse metabolic and morphological alterations. All of these conditions will finally lead to photoreceptor degeneration, which can be generalized, as in ...
Rafael Navarro, Anniken Burés-Jelstrup
openaire   +1 more source

Nasal Nitric Oxide in Patients with Inherited Retinal Dystrophies

Journal of Investigative Medicine, 2015
Background Ciliopathies refer to a wide variety of diseases in which mutations in the genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia play pathogenetic roles, and in such diseases, retinal involvement may be present.
HEFFLER, Enrico Marco, Marchese C, BOITA, MONICA, ROLLA, Giovanni   +3 more
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Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding

2018
Genetic testing is a medical test that studies human DNA to discover genetic changes or mutations that could lead to genetic disease. Genetic testing is performed on samples of DNA that can be obtained from blood, hair, skin, saliva, amniotic fluid, or other tissues.
Stephen H, Tsang, Tarun, Sharma
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Imaging in Inherited Retinal Dystrophies

Abstract Inherited retinal diseases (IRDs) are prominent contributors to vision loss worldwide. While recent advances in molecular genetics have expanded the landscape for precise and accurate diagnoses in this field, retinal imaging modalities remain essential tools to assist clinicians in making skilled diagnoses.
Matthew W. Russell, Elias I. Traboulsi, Justis P. Ehlers   +2 more
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Nutraceutical supplementation in inherited retinal dystrophies

Acta Ophthalmologica
*Correspondence: rrodrigo@cipf.es; Tel: (+34 96 328 96 80)Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy causing progressive vision loss. Ocular redox status is altered in RP suggesting oxidative stress could contribute to their progression.
Sheyla Velasco, Lorena Olivares‐González, Silvia Morales, Daira Valencia, Marina Esteban‐Medina, Carlos Loucera, David Salom, Emilio González García, Jose Miguel Soriano del Castillo, Regina Rodrigo   +9 more
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NICE recommends gene therapy for inherited retinal dystrophy

BMJ, 2019
Draft guidance from the National Institute for Health and Care Excellence (NICE) has recommended licensed gene therapy for people with vision loss caused by RPE65 mediated inherited retinal dystrophy who have enough viable retinal cells, after a deal between NICE and the manufacturer Novartis.1 RPE65 mediated inherited retinal dystrophies are rare and
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RNA-Based Therapeutic Strategies for Inherited Retinal Dystrophies

2019
Inherited retinal dystrophies (IRDs) are genetic diseases affecting 1 in every 3000 individuals worldwide. Nowadays, more than 250 genes have been associated with different forms of IRD. In the last decade, it has been shown that gene therapy is a promising approach to correct the genetic defects underlying IRD.
openaire   +2 more sources