Results 91 to 100 of about 40,110 (209)

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

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

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Journal of Ophthalmology
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez, Rocío Arce-González, Alan Martínez-Aguilar, Carlos E. Rodríguez-López, Sergio Groman-Lupa, M. Isabel Neria-González, Genaro Rodríguez-Uribe, Juan C. Zenteno   +7 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

Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

Investigative Ophthalmology and Visual Science, 2016
PURPOSE C21orf2 encodes a ciliary protein related to syndromic and nonsyndromic retinal degeneration. The purpose of this study was to identify novel mutations of C21orf2 associated with syndromic autosomal recessive retinitis pigmentosa (arRP) and ...
Akiko Suga, A. Mizota, Mitsuhiro Kato, K. Kuniyoshi, K. Yoshitake, W. Sultan, M. Yamazaki, Y. Shimomura, K. Ikeo, K. Tsunoda, T. Iwata   +10 more
semanticscholar   +1 more source

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Italian Journal of Pediatrics, 2019
Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, Raffaele Falsaperla   +6 more
doaj   +1 more source

Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina.

PLoS ONE, 2014
Mutations in the RPE65 gene are associated with autosomal recessive early onset severe retinal dystrophy. Morphological and functional studies indicate early and dramatic loss of rod photoreceptors and early loss of S-cone function, while L and M cones ...
Daniela Klein, Alexandra Mendes-Madeira, Patrice Schlegel, Fabienne Rolling, Birgit Lorenz, Silke Haverkamp, Knut Stieger   +6 more
doaj   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population

Scientific Reports
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida   +11 more
doaj   +1 more source