Results 1 to 10 of about 8,425 (140)

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   +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, Jennifer C. Kwok, Yu Sato, Gustavo D. Aguirre, Keiko Miyadera   +4 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, Shu Liu, Yuanqi Zhai, Yang Liu, Xiaoling Wan, Wenqiu Wang, Fenghua Wang, Xiaodong Sun   +7 more
doaj   +2 more sources

A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review [PDF]

American Journal of Ophthalmology Case Reports
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 ...
Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang   +6 more
doaj   +2 more sources

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy [PDF]

Scientific Reports, 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 ...
Benedetto Falsini, Giorgio Placidi, Elisa De Siena, Pietro Chiurazzi, Angelo Maria Minnella, Maria Cristina Savastano, Lucia Ziccardi, Vincenzo Parisi, Giancarlo Iarossi, Marcella Percio, Barbora Piteková, Giuseppe Marceddu, Paolo Enrico Maltese, Matteo Bertelli   +13 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

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
Masato Shinozuka, Mizuho Arai, Yumeno Hirayama, Yuna Uechi, Shohei Kawasaki, Kazuyoshi Okawa, Yume Iwashita, Misa Miyazato, Kazushi Hirono, Kentaro Nakamura, Tatsuya Inoue, Ryo Asaoka, Yasuo Yanagi, Maiko Maruyama-Inoue, Kazuaki Kadonosono   +14 more
doaj   +2 more sources

ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study. [PDF]

JAMA Ophthalmol
ImportanceReliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. ObjectiveTo identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers.
Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, Audo I.   +13 more
europepmc   +2 more sources

NMNAT1 variants cause cone and cone-rod dystrophy. [PDF]

Eur J Hum Genet, 2018
Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA).
Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV.   +6 more
europepmc   +4 more sources

Diagnostic Role of Chromatic Full-Field Stimulus Test in Rod–Cone Versus Cone Dystrophies [PDF]

Biomedicines
Background: Inherited retinal dystrophies are a heterogeneous group of progressive disorders impacting photoreceptor function, often limiting the usefulness of standard electroretinography in advanced cases.
Aykut Demirkol, Esra Sahli, Baichun Hou, Promie R. Faruque, Ilay Demirkol, Kuzey Soydas, Stephen H. Tsang   +6 more
doaj   +2 more sources