Results 151 to 160 of about 5,980 (178)

Inherited Retinal Dystrophies

2019
Evaluation begins with a careful history of systemic and visual symptoms. Important parts of the history include age of onset, laterality, nyctalopia (night blindness), hemeralopia (day blindness), and visual distortion. A family history is critical and can help narrow the differential diagnosis and later guide genetic testing.
Gregory Stein, Tarun Sharma, Thiago Cabral, Stephen Tsang, Wendy Chung   +4 more
openaire   +1 more source

The effect of diet on inherited retinal dystrophy in the rat

Current Eye Research, 1984
The rate of photoreceptor cell degeneration was significantly retarded in albino rats afflicted with inherited retinal dystrophy by merely changing the food supply from a commercial lab chow to a well defined diet. The data suggest that female dystrophic rats may benefit somewhat more from this dietary manipulation than the males.
E L, Pautler, S R, Ennis
openaire   +2 more sources

Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies [PDF]

Molecular Therapy - Nucleic Acids
Esther Pomares
exaly   +2 more sources

Generalized Inherited Retinal Dystrophies

2010
Inherited retinal dystrophies are a major cause of visual deficit worldwide. This chapter focuses on generalized forms that diffusely affect the outer retinal function, primarily the photoreceptors and the adjacent structures. Diagnostic entities in this broad category range from the relatively common retinitis pigmentosa, occurring in up to 1 in 2,500
Shahrokh C. Khani, Airaj Fasiuddin
openaire   +1 more source

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
openaire   +2 more sources

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 M, Rolla G.   +3 more
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +1 more source

Protein synthesis in retinas of rats with inherited retinal dystrophy

Experimental Eye Research, 1980
The populations of proteins synthesized in retinas from normal Fischer rats and those with inherited retinal dystrophy (RCS strain) were compared directly using a double-label technique combined with fractionation on SDS gels. Stages examined ranged from before (postnatal day 7), during (days 22–44) and after (day 71) overt degeneration of ...
B A, Battelle, M M, LaVail
openaire   +2 more sources

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