نتایج جستجو برای: retinitis pigmentosa rp

تعداد نتایج: 22908  

2015
Yang Jing

Retinitis pigmentosa (RP) encompasses many different hereditary retinal degenerations that are caused by a vast array of different gene mutations and have highly variable disease presentations and severities. Work over the past 25 years has resulted in the identification of genes responsible for ~50% of the RP cases, and it’s predicted that most of the remaining disease-causing genes will be id...

2011
José M. Millán Elena Aller Teresa Jaijo Fiona Blanco-Kelly Ascensión Gimenez-Pardo Carmen Ayuso

Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized b...

2013
Cristina Martínez-Fernández de la Cámara David Salom Ma Dolores Sequedo David Hervás Cristina Marín-Lambíes Elena Aller Teresa Jaijo Manuel Díaz-LLopis José María Millán Regina Rodrigo

Retinitis Pigmentosa is a common form of hereditary retinal degeneration constituting the largest Mendelian genetic cause of blindness in the developed world. It has been widely suggested that oxidative stress possibly contributes to its pathogenesis. We measured the levels of total antioxidant capacity, free nitrotyrosine, thiobarbituric acid reactive substances (TBARS) formation, extracellula...

Journal: :The Journal of clinical investigation 1986
G M Galbraith D Emerson H H Fudenberg C J Gibbs D C Gajdusek

Antibodies reactive with heterologous neural tissue were detected by indirect immunofluorescence microscopy in the sera of 17 of 34 patients with retinitis pigmentosa, one of 30 normal control sera, and a variable percentage of sera derived from subjects with diverse ocular and neurological diseases. These antibodies were also found both in disease-free first degree relatives and in spouses of ...

Journal: :Investigative ophthalmology & visual science 1980
C J Brinkman A J Pinckers R M Broekhuyse

The immune status of patients suffering from different types of retinitis pigmentosa has been investigated. The lymphocytes of these patients could be stimulated by incubation with human soluble retinal antigens as well as with bovine rod outer segments. The results suggest the involvement of the cellular immune system in retinitis pigmentosa. The leukocyte migration inhibition test also point...

ابدالی, سمیرا, جعفر زاده پور, ابراهیم, هاشمی, بیژن,

Background and purpose: Retinitis Pigmentosa (RP) is one of the retinal degeneration diseases affecting the eye signals. Electroretinogram (ERG) is a signal that plays an important role in diagnosis and treatment of RP. This signal includes useful information that cannot be revealed just in time domain. We aimed to investigate the effect of RP on time, frequency, and time-frequency parameters o...

2018
Tomoko Hasegawa Hanako Ohashi Ikeda Sachiko Iwai Yuki Muraoka Tatsuaki Tsuruyama Keiko Okamoto-Furuta Haruyasu Kohda Akira Kakizuka Nagahisa Yoshimura

Retinal neuronal cell death underlies many incurable eye diseases such as retinitis pigmentosa (RP) and glaucoma, and causes adult blindness. We have shown that maintenance of ATP levels via inhibiting ATP consumption is a promising strategy for preventing neuronal cell death. Here, we show that branched chain amino acids (BCAAs) are able to increase ATP production by enhancing glycolysis. In c...

Journal: :The British journal of ophthalmology 2000
G B Arden J E Wolf F Singbartl T E Berninger G Rudolph A Kampik

BACKGROUND Light absorbed by photoreceptors causes oscillations in the voltage across the retinal pigment epithelium (RPE). This is the basis of the clinical test, electro-oculography (EOG). We have previously shown that alcohol causes a sequence of voltage changes which are so precisely the same as those caused by light that they must be produced by the same RPE machinery. There is good eviden...

Journal: :Investigative ophthalmology & visual science 1986
R L Hendricks G A Fishman

Although initial investigations of peripheral blood lymphocytes (PBL) from patients with retinitis pigmentosa (RP) demonstrated a reduced percentage of Leu-4 positive (pan-T) lymphocytes, the authors recently determined that the absolute number of Leu-4 positive cells per milliliter of blood is normal. This investigation studied the production of the lymphokines gamma-interferon (gamma-IFN) and...

Journal: :Cell 2015
Najate Aït-Ali Ram Fridlich Géraldine Millet-Puel Emmanuelle Clérin François Delalande Céline Jaillard Frédéric Blond Ludivine Perrocheau Sacha Reichman Leah C. Byrne Anne Olivier-Bandini Jacques Bellalou Emmanuel Moyse Frédéric Bouillaud Xavier Nicol Deniz Dalkara Alain van Dorsselaer José-Alain Sahel Thierry Léveillard

Rod-derived cone viability factor (RdCVF) is an inactive thioredoxin secreted by rod photoreceptors that protects cones from degeneration. Because the secondary loss of cones in retinitis pigmentosa (RP) leads to blindness, the administration of RdCVF is a promising therapy for this untreatable neurodegenerative disease. Here, we investigated the mechanism underlying the protective role of RdCV...

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