Results 81 to 90 of about 10,452 (214)

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

, 2014
International audienceFor the development of new therapies, proof-of-concept studies in large animal models that share clinical features with their human counterparts represent a pivotal step.
Lhériteau, Elsa, Fabienne Rolling, Deschamps, Jack-Yves, Lemoine, Françoise, Lyse Libeau, El-Amraoui, Aziz, Achille François, Françoise Lemoine, Elsa Lhériteau, Guihal, Caroline, Alexandra Mendes-Madeira, Rolling, Fabienne, Guyon, Richard, Jack-Yves Deschamps, Mendes-Madeira, Alexandra, Samantha Papal, Guylène Le Meur, François, Achille, Philippe Moullier, Marie-Anne Colle, Libeau, Lyse, Caroline Guihal, Provost, Nathalie, Moullier, Philippe, Petit, Lolita, Weber, Michel, Papal, Samantha, Michel Weber, Aziz El-Amraoui, Colle, Marie-Anne, Le Meur, Guylène, Richard Guyon, Nathalie Provost, Lolita Petit   +33 more
core   +1 more source

CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish [PDF]

, 2017
In humans, CERKL mutations cause widespread retinal degeneration: early dysfunction and loss of rod and cone photoreceptors in the outer retina and, progressively, death of cells in the inner retina.
Zhaohui Tang, Biswas, Lincoln, Tao Jiang, Xiliang Liu, Shu, Xinhua, Wong, Fulton, Fulton Wong, Chang Li, Liu, Fei, Lei Wang, Liu, Xiliang, Huang, Yuwen, Jiang, Tao, Zhaojing Lu, James Reilly, Yu, Shanshan, Reilly, James, Shanshan Yu, Han, Shanshan, Liu, Jing Yu, Lincoln Biswas, Ying Liu, Lu, Zhaojing, Fei Liu, Xinhua Shu, Liu, Ying, Hu, Xuebin, Xuebin Hu, Liu, Mugen, Shanshan Han, Mugen Liu, Wang, Lei, Tang, Zhaohui, Li, Chang, Jing Yu Liu, Yuwen Huang   +35 more
core   +1 more source

The phenotypic variability of HK1-associated retinal dystrophy

Scientific Reports, 2017
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen   +12 more
doaj   +1 more source

Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies

iScience
Summary: Rod-cone dystrophy (RCD) comprises genetic conditions where rod photoreceptor degeneration leads to cone loss, causing progressive vision loss.
Cardillia-Joe Simon, Hanen Khabou, Antoine Chaffiol, Marco Rucli, Marion Finzi, Nat Norberg, Anaïs Grimaud, Brix Mücher, Mélissa Desrosiers, Serge Sancho, Vera Lucia Bonilha, Kate Grieve, Jens Duebel, Michel Paques, Serge Picaud, José Alain Sahel, Isabelle Audo, Stefan Herlitze, Deniz Dalkara   +18 more
doaj   +1 more source

CDHR1 mutations in retinal dystrophies

Scientific Reports, 2017
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene.
Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh   +9 more
doaj   +1 more source

Retinitis Pigmentosa - Rod Dystrophy

, 2014
PowerPoint discussing retinitis pigmentosa, rod dystrophy. Retinitis Pigmentosa is a generalized retinal dystrophy with peripheral rather than central onset Primarily rod-cone dystrophy.
Gregory P. Van Stavern, MD
core  

Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration.

PLoS Genetics
Inherited retinal diseases (IRDs) are a diverse group of disorders that share common vision deficits ranging from early onset blindness to severe and progressive later-onset disease. We report a form of early-onset day-vision loss, cone-rod dystrophy, in
Leonardo Murgiano, Jessica K Niggel, Kei Takahashi, Valérie L Dufour, Catharina R Grubaugh, Raghavi Sudharsan, Jennifer C Kwok, Doreen Becker, Esha Banerjee, Wen-Mei Yu, Tosso Leeb, Cheng-Kui Qu, William A Beltran, Gustavo D Aguirre   +13 more
doaj   +1 more source

Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study

Ophthalmology Science
Purpose: Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone ...
Alexis Ceecee Britten-Jones, BOptom (Hons), PhD, Chi D. Luu, BOrth (Hons), PhD, Jasleen K. Jolly, MSc, DPhil, Carla J. Abbott, BOptom, PhD, Penelope J. Allen, MBBS, FRANZCO, Tina Lamey, PhD, Terri McLaren, BSc, Jennifer A. Thompson, PhD, John De Roach, PhD, Thomas L. Edwards, PhD, FRANZCO, Lauren N. Ayton, BOptom, PhD   +10 more
doaj   +1 more source

Isolated rod dysfunction associated with a novel genotype of CNGB1

American Journal of Ophthalmology Case Reports, 2019
Purpose: To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of CNGB1, mutations in which are implicated in autosomal recessive retinitis pigmentosa (rod-cone dystrophy). Observations: A
Rola Ba-Abbad, Graham E. Holder, Anthony G. Robson, Magella M. Neveu, Naushin Waseem, Gavin Arno, Andrew R. Webster   +6 more
doaj   +1 more source

Genetic testing for cone rod dystrophies

The EuroBiotech Journal, 2017
Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1,
Abeshi A, Zulian A, Beccari T, Dundar M, Ziccardi L, Bertelli M   +5 more
openaire   +4 more sources