Results 1 to 10 of about 10,766 (232)

Genetic testing in retinal dystrophies.

Oman Journal of Ophthalmology, 2011
Developments in genetics and technology are bringing with them incredible possibilities in the management and potential cure of patients with retinal dystrophy. In this editorial, we address the issue of genetic testing in retinal dystrophies.
Anuradha Ganesh, Keep, Rosanne B, Rosanne B Keep, Ganesh, Anuradha   +3 more
core   +5 more sources

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico. [PDF]

BMC Ophthalmol
Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Villafuerte-de la Cruz RA, Garza-Garza LA, Garza-Leon M, Rodriguez-De la Torre C, Parra-Bernal C, Vazquez-Camas I, Ramos-Gonzalez D, Rangel-Padilla A, Espino Barros-Palau A, Nava-García J, Castillo-Velazquez J, Castillo-De Leon E, Del Valle-Penella A, Valdez-Garcia JE, Rojas-Martinez A.   +14 more
europepmc   +3 more sources

Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies

International Journal of Molecular Sciences, 2021
Inherited retinal dystrophies (IRDs) are a group of retinal disorders that cause progressive and severe loss of vision because of retinal cell death, mainly photoreceptor cells. IRDs include retinitis pigmentosa (RP), the most common IRD.
Lorena Olivares-González, Sheyla Velasco, Regina Rodrigo   +2 more
exaly   +2 more sources

Fundus autofluorescence imaging of retinal dystrophies

Vision Research, 2008
Contains fulltext : 70199theelen.pdf (Publisher’s version ) (Open Access)Fundus autofluorescence (FAF) is a non-invasive imaging technique that enables the visualization of lipofuscin changes in the retinal pigment epithelium.
Camiel J F Boon, B Jeroen Klevering, Jan E E Keunen   +2 more
exaly   +2 more sources

Inherited Retinal Dystrophies: The role of gene expression regulators

International Journal of Biochemistry and Cell Biology, 2015
Inherited Retinal Dystrophies (IRDs) are a clinically and genetically heterogeneous group of rare disorders characterized by a significant impairment in retinal function and vision.
Marianthi Karali, Sandro Banfi
exaly   +2 more sources

[Gene therapy for retinal dystrophies].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2012
Genetic mutations are the cause of inherited retinal dystrophies. The underlying genetic basis of these diseases suggests that a gene therapy approach is logical either to replace or reduce the expression of defective genes.
Charbel Issa, P, Issa, PC, Groppe, M, Maclaren, Robert, MacLaren, RE, Groppe, Markus   +5 more
core   +4 more sources

Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy

, 2022
PURPOSETo report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy. METHODSCase report. RESULTSA 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion.
Kennedy, Thomas, Shaheen, Abdulla R, Yannuzzi, Nicolas A, Yannuzzi, Lawrence A   +3 more
core   +1 more source

INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]

The Journal of Cell Biology, 1962
Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
openaire   +2 more sources

CRB1-Associated retinal dystrophies: a anticipation of future clinical trials [PDF]

, 2021
PURPOSE: To investigate the natural disease course of retinal dystrophies associated with crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future clinical trials. DESIGN: Single-center, prospective case series. METHODS:
Talib, M., Thiadens, A.A.H.J., Klaver, C.C.W., Meester-smoor, M.A., Florijn, R.J., Cremers, F.P.M., Boon, C.J.F., Talsma, H.E., Fiocco, M., Hoyng, C.B., Brink, J.B. ten, Born, L.I. van den, Schalij-delfos, N.I.E., Bergen, A.A., Wijnholds, J., Genderen, M.M. van, Schooneveld, M.J. van, Nguyen, X.T.A.   +17 more
core   +2 more sources

Gene therapy for retinal dystrophy [PDF]

Nature Medicine, 2019
Counteracting splice defects in the CEP290 gene using RNA antisense oligonucleotides or Cas9-mediated gene editing is a therapeutic strategy for Leber congenital amaurosis type 10—a severe untreatable retinal dystrophy leading to childhood blindness.
Sahel, José-Alain, Dalkara, Deniz
openaire   +3 more sources