Results 61 to 70 of about 15,997 (234)

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Gene Therapy in Retinal Dystrophies [PDF]

International Journal of Molecular Sciences, 2019
Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous degenerative disorders. To date, mutations have been associated with IRDs in over 270 disease genes, but molecular diagnosis still remains elusive in about a third of cases. The methodologic developments in genome sequencing techniques that we have witnessed in
Ziccardi L, Cordeddu V, Gaddini L, Matteucci A, Parravano M, Malchiodi-Albedi F, Varano M   +6 more
openaire   +3 more sources

Light-induced charge generation in polymeric nanoparticles restores vision in advanced-stage retinitis pigmentosa rats

Nature Communications, 2022
Retinal dystrophies such as Retinitis pigmentosa are among the most prevalent causes of inherited incurable legal blindness. Here the authors demonstrate that conjugated polymer nanoparticles reinstate visual functions in aged rats with fully degenerated
S. Francia, D. Shmal, S. Di Marco, G. Chiaravalli, J. F. Maya-Vetencourt, G. Mantero, C. Michetti, S. Cupini, G. Manfredi, M. L. DiFrancesco, A. Rocchi, S. Perotto, M. Attanasio, R. Sacco, S. Bisti, M. Mete, G. Pertile, G. Lanzani, E. Colombo, F. Benfenati   +19 more
doaj   +1 more source

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
core   +1 more source

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina

Molecular Therapy: Nucleic Acids
Genome editing by CRISPR-Cas holds promise for the treatment of retinal dystrophies. For therapeutic gene editing, transient delivery of CRISPR-Cas9 is preferable to viral delivery which leads to long-term expression with potential adverse consequences ...
Juliette Pulman, Catherine Botto, Hugo Malki, Duohao Ren, Paul Oudin, Anne De Cian, Marie As, Charlotte Izabelle, Bruno Saubamea, Valerie Forster, Stéphane Fouquet, Camille Robert, Céline Portal, Aziz El-Amraoui, Sylvain Fisson, Jean-Paul Concordet, Deniz Dalkara   +16 more
doaj   +1 more source

Hereditary retinal eye diseases in childhood and youth affecting the central retina

Oman Journal of Ophthalmology, 2013
Hereditary dystrophies affecting the central retina represent a heterogeneous group of diseases. Mutations in different genes may be responsible for changes of the choroid (choroideremia), of the retinal pigment epithelium [RPE] (Best′s disease), of the ...
Martin M Nentwich, Guenther Rudolph
doaj   +1 more source

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +1 more source

Animal modelling for inherited central vision loss. [PDF]

, 2016
Disease-causing variants of a large number of genes trigger inherited retinal degeneration leading to photoreceptor loss. Because cones are essential for daylight and central vision such as reading, mobility, and face recognition, this review focuses on ...
Aguirre GD, Aguirre GD, Bernstein PS, Du W, Gerke CG, Goldstein O, Hood DC, Miyadera K, Mowat FM, Pang JJ, Parsons JT, Xiao X   +11 more
core   +1 more source

Minocycline and bone marrow–derived mononuclear cells as potential therapeutics for hereditary retinal degenerations

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess in Royal College of Surgeons (RCS) rats if the combination of two previously documented neuroprotective strategies: minocycline administration and bone marrow–derived mononuclear cells (BM‐MNCs) intravitreal transplantation, offers enhanced neuroprotection compared with each treatment alone.
Alba Videla‐Ristol, Ana Martínez‐Vacas, David García‐Bernal, Manuel Vidal‐Sanz, María Paz Villegas‐Pérez, Diego García‐Ayuso, Johnny Di Pierdomenico   +6 more
wiley   +1 more source