Results 1 to 10 of about 8,952 (129)

Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree [PDF]

Molecular Genetics & Genomic Medicine
Background This study aimed to characterize the clinical and genetic features of a Chinese family with cone‐rod dystrophy in which compound heterozygous PCDH15 variants were identified.
Lei Zhang, Qianfeng Wang, Haiyan Wang, Wei Jia, Bowen Zhang, Ru Wang, Wei Qiang, Shuwei Bai   +7 more
doaj   +3 more sources

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene [PDF]

Frontiers in Cell and Developmental Biology, 2021
Purpose:ARL3 (ADP-ribosylation factor-like 3) variants cause autosomal dominant retinitis pigmentosa (RP) or autosomal recessive Joubert syndrome. We found a family with rod-cone dystrophy (RCD) and verified it was associated with compound heterozygous ...
Leming Fu, Ya Li, Shun Yao, Qingge Guo, Ya You, Xianjun Zhu, Bo Lei, Bo Lei   +7 more
doaj   +2 more sources

GNB1-Related Rod-Cone Dystrophy: A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +2 more sources

The research output of rod-cone dystrophy genetics [PDF]

Orphanet Journal of Rare Diseases, 2022
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development ...
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh   +6 more
doaj   +2 more sources

Rod-cone dystrophy with myriad systemic manifestations [PDF]

Oman Journal of Ophthalmology
Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism ...
Goudappa Patil, Premika Pandarasamy, N. V. S. Krishna Reddy, Pratyusha Ganne   +3 more
doaj   +2 more sources

Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report [PDF]

Case Reports in Ophthalmology, 2018
Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy.
Jocelyn Lam, Bradley Sifrig, Hoon Jung
doaj   +2 more sources

Cone–Rod Dystrophy PCARE-Associated Retinopathy [PDF]

Diagnostics
Background and Clinical Significance: Biallelic pathogenic variants in the PCARE gene (photoreceptor cilium actin regulator), also known as C2orf71 (chromosome 2 open reading frame 71), are typically associated with retinitis pigmentosa type 54 (RP54 ...
Maria Sopena-Pinilla, Maria Arruebo-Muñio, Marta Arias-Alvarez, Maria Arcas-Carbonell, Pablo Tejada-González, Carmen Lahuerta-Pueyo, Diana Pérez García, Isabel Pinilla   +7 more
doaj   +2 more sources

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

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   +2 more sources

Bardet-Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Bardet–Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, rod‐cone dystrophy, polydactyly, developmental delay, renal dysfunction, and genitourinary abnormalities. We report the case of a 27‐year‐old female with previously undiagnosed BBS who presented with acute kidney injury precipitated by acute ...
Abbas A, Amjad N, Mufti AF, Waqas M, Iqbal M, Ali H, Habib A, Samadi Y, Haider MU.   +8 more
europepmc   +2 more sources

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families [PDF]

International Journal of Ophthalmology, 2022
AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p ...
Hui Cui, Xin Jin, Qing-Hua Yang, Ling-Hui Qu, Bao-Ke Hou, Zhao-Hui Li, Hou-Bin Huang   +6 more
doaj   +1 more source