Results 71 to 80 of about 15,202 (200)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +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

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

Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope. [PDF]

, 2011
We demonstrate the capability of a new generation adaptive optics scanning laser ophthalmoscope (AOSLO) to resolve cones and rods in normal subjects, and confirm our findings by comparing cone and rod spacing with published histology measurements.
Duncan, Jacque L, Merino, David, Roorda, Austin, Tiruveedhula, Pavan   +3 more
core   +3 more sources

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

Outer Retinal Structure in Best Vitelliform Macular Dystrophy [PDF]

, 2013
Importance Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD).
Carroll, Joseph, Cooper, Robert F., Dubis, Adam M., Dubra, Alfredo, Godara, Pooja, Kay, David B., Land, Megan E., Stepien, Kimberly E.   +7 more
core   +3 more sources

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

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

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 2 : retrievers and other breed types [PDF]

, 2016
A Belgian population of ten breeds with a low to moderately low genetic diversity or which are relatively popular in Belgium, i.e. Bichon frise, Bloodhound, Bouvier des Flandres, Boxer, Cavalier King Charles spaniel, Irish setter, Papillon, Rottweiler ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
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