Peripapillary vessel density in eyes with cone-rod dystrophy. [PDF]
PLoS ONEPurposeTo compared the vessel density (VD) around the optic nerve head (ONH) in eyes with cone-rod dystrophy (CORD) and healthy control eyes in a sector-wise manner and to investigate the relationship between VD around the ONH and visual function in CORD
Masato Shinozuka +14 more
doaj +4 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 +6 more
doaj +2 more sources
Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy [PDF]
Frontiers in Cellular Neuroscience, 2023 Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is essential for the maintenance of the outer segment, and pathogenic variants in more than 50 cilia ...
Kei Takahashi +4 more
doaj +2 more sources
Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene
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 ...
Qingge Guo, Xianjun Zhu, Bo Lei
exaly +3 more sources
A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review [PDF]
American Journal of Ophthalmology Case ReportsPurpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D ...
Pei-Liang Wu +6 more
doaj +2 more sources
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family [PDF]
BMC Ophthalmology, 2021 Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field.
Yafang Wang +7 more
doaj +2 more sources
Unilateral retinitis pigmentosa and cone-rod dystrophy
Clinical Ophthalmology, 2009 Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj +5 more sources
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. [PDF]
Sci Rep, 2022 Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger ...
Falsini B +13 more
europepmc +2 more sources
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. [PDF]
PLoS One, 2022 Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to ...
Donato L +7 more
europepmc +2 more sources
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. [PDF]
Doc Ophthalmol, 2023 Introduction Mutations in the peripherin-2 gene ( PRPH2 ) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity.
Soucy M +3 more
europepmc +2 more sources