Results 91 to 100 of about 37,333 (227)

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

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

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

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

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

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Ophthalmology Retina, 2022
Leo C. Hahn, M. Georgiou, Hind Almushattat, M. V. van Schooneveld, E. R. de Carvalho, Nieneke L. Wesseling, J. T. ten Brink, R. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, C. van Cauwenbergh, J. de Zaeytijd, S. Walraedt, Elfride de Baere, R. Mukherjee, M. Mckibbin, Magda A. Meester-Smoor, A. Thiadens, S. Al-Khuzaei, Engin Akyol, A. Lotery, M. V. van Genderen, J. O. Norel, L. Ingeborgh van den Born, C. Hoyng, C. Klaver, S. Downes, A. Bergen, B. Leroy, M. Michaelides, C. Boon   +30 more
semanticscholar   +1 more source

Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology

Scientific Reports, 2017
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1ins/ins) as the primary disease ...
Rueben G. Das, F. Marinho, S. Iwabe, Evelyn Santana, K. McDaid, G. Aguirre, K. Miyadera   +6 more
semanticscholar   +1 more source

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants

Molecular Genetics & Genomic Medicine, 2020
Background Mutations in the human crumbs homologue 1 (CRB1) gene are associated with a spectrum of inherited retinal diseases. However, functional studies demonstrating the impact of individual CRB1 mutations on gene expression are lacking for most ...
Xiao Zhang, Jennifer A. Thompson, Dan Zhang, Jason Charng, Sukanya Arunachalam, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Luke Jennings, Samuel McLenachan, Fred K. Chen   +10 more
doaj   +1 more source