Results 1 to 10 of about 429,850 (164)

Cone-Rod Dystrophy <i>PCARE</i>-Associated Retinopathy. [PDF]

Diagnostics (Basel)
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 ...
Sopena-Pinilla M, Arruebo-Muñio M, Arias-Alvarez M, Arcas-Carbonell M, Tejada-González P, Lahuerta-Pueyo C, Pérez García D, Pinilla I.   +7 more
europepmc   +3 more sources

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

Mol Genet Genomic Med
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.
Zhang L, Wang Q, Wang H, Jia W, Zhang B, Wang R, Qiang W, Bai S.   +7 more
europepmc   +3 more sources

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

Int J Ophthalmol, 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 ...
Cui H, Jin X, Yang QH, Qu LH, Hou BK, Li ZH, Huang HB.   +6 more
europepmc   +2 more sources

Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy. [PDF]

Front Cell Neurosci, 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 ...
Takahashi K, Kwok JC, Sato Y, Aguirre GD, Miyadera K.   +4 more
europepmc   +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 <i>GUCY2D</i> variant associated cone-rod dystrophy with electronegative ERG: A case report and review. [PDF]

Am J Ophthalmol Case Rep
Purpose: 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 ...
Wu PL, Lin PH, Lee W, Wang EH, Kang EY, Liu L, Wang NK.   +6 more
europepmc   +2 more sources

Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family. [PDF]

BMC Ophthalmol, 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.
Wang Y, Liu S, Zhai Y, Liu Y, Wan X, Wang W, Wang F, Sun X.   +7 more
europepmc   +2 more sources

Peripapillary vessel density in eyes with cone-rod dystrophy. [PDF]

PLoS One
PurposeTo 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
Shinozuka M, Arai M, Hirayama Y, Uechi Y, Kawasaki S, Okawa K, Iwashita Y, Miyazato M, Hirono K, Nakamura K, Inoue T, Asaoka R, Yanagi Y, Maruyama-Inoue M, Kadonosono K.   +14 more
europepmc   +2 more sources

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. [PDF]

PLoS ONE, 2016
GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous
Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz   +15 more
doaj   +1 more source