Results 201 to 210 of about 19,769 (229)

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Draft guidance from the National Institute for Health and Care Excellence (NICE) has recommended licensed gene therapy for people with vision loss caused by RPE65 mediated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
openaire   +2 more sources

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

Inherited retinal dystrophies

2022
openaire   +1 more source

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

Ophthalmology, 2023
Laryssa A Huryn, Christina T Kozycki, Ehsan Ullah   +2 more
exaly  

[Genetic diagnostic testing in inherited retinal dystrophies].

Klinische Monatsblatter fur Augenheilkunde, 2013
Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy ...
S, Kohl, S, Biskup
openaire   +1 more source

An inherited central retinal pigment epithelial dystrophy.

Birth defects original article series, 1983
This report describes three generations of one family in which a mother and three of her children were affected by an unusual bilateral symmetrical atrophy of the retinal pigment epithelium in the macular area. All members of the family underwent complete eye examinations, stereoscopic color fundus photography and fluorescein angiography.
R, Klein, G, Bresnick
openaire   +1 more source

Inherited Retinal Dystrophies - from theory to practice.

2021
Inherited Retinal Dystrophies - from theory to practice.
openaire  

[Gene Replacement Therapy for Inherited Retinal Dystrophies].

Klinische Monatsblatter fur Augenheilkunde, 2017
Characteristics of inherited retinal dystrophies include deficiencies in light perception and nervous conduction within the retina, leading to reduced vision or even blindness. In this context, the loss of function of photoreceptor-specific genes causes a variety of clinically and aetiologically distinct syndromes - each of them belonging to the group ...
R, Mühlfriedel, V, Sothilingam, N, Tanimoto, M W, Seeliger   +3 more
openaire   +1 more source

OCT angiography in inherited retinal dystrophies

Minerva Oftalmologica, 2018
Bacherini, Daniela, Sodi, Andrea, Virgili, Gianni, Rizzo, Stanislao   +3 more
openaire   +1 more source