Results 191 to 200 of about 19,769 (229)
Some of the next articles are maybe not open access.
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 +4 more
openaire +1 more source
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 +4 more
openaire +1 more source
Generalized Inherited Retinal Dystrophies
2010Inherited 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
Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies
2015Inherited retinal dystrophies (IRDs) are an extremely heterogeneous group of genetic diseases for which currently no effective treatment strategies exist. Over the last decade, significant progress has been made utilizing gene augmentation therapy for a few genetic subtypes of IRD, although several technical challenges so far prevent a broad clinical ...
Gerard, X. +3 more
openaire +3 more sources
Mechanism of retinal ganglion cell loss in inherited retinal dystrophy
NeuroReport, 1996To 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 +2 more
openaire +2 more sources
Inherited Retinal Dystrophy in Mer Knockout Mice
2003Abnormalities 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 +10 more
openaire +2 more sources
Early Visual Symptom Patterns in Inherited Retinal Dystrophies
Ophthalmologica, 2011The 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 +3 more
openaire +2 more sources
Inherited Retinal Pigmentary Degenerations and Inherited Macular Dystrophies
2012Progressive 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, 2015Background 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 +3 more
openaire +3 more sources
Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding
2018Genetic 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
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 +2 more
openaire +1 more source