Results 101 to 110 of about 15,202 (200)

Cone-Rod Dystrophy: Ocular Genetic Studies

Güncel Retina Dergisi (Current Retina Journal)
Cone/Cone-Rod Dystrophy (CD/CRD) constitutes a group of rare inherited retinal disorders characterized by predominant cone cell involvement, with subsequent rod cell degeneration in the later stages of the disease (in the CRD subgroup). In most cases, symptoms manifest within the first decade of life, typically presenting as central vision loss, color ...
Melike ŞENSOY, Eyüpcan ŞENSOY, Mehmet ÇITIRIK   +2 more
openaire   +1 more source

Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4. [PDF]

Int J Mol Sci, 2022
Vellani V, Mauro G, Demontis GC.
europepmc   +1 more source

RGS9-1 is required for normal inactivation of mouse cone phototransduction [PDF]

, 2001
Purpose: To test the hypothesis that Regulator of G-protein Signaling 9 (RGS9-1) is necessary for the normal inactivation of retinal cones. Methods: Mice having the gene RGS9-1 inactivated in both alleles (RGS9-1 -/-) were tested between the ages 8-10 ...
Chen, C.-K., Lyubarsky, A. L., Naarendorp, F., Pugh, E. N., Jr., Simon, M. I., Wensel, T., Zhang, X.   +6 more
core  

Electrophysiology for ophthalmologist (A practical approach)

Journal of Clinical Ophthalmology and Research, 2013
The article deals with the basic understanding of electrophysiological tests in clinical practice. Electrophysiological tests involves assessing the function of the rod-cone system and proximal visual pathway.
Deepak Bhatt
doaj  

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
Donato L, Alibrandi S, Scimone C, Rinaldi C, Dascola A, Calamuneri A, D'Angelo R, Sidoti A.   +7 more
europepmc   +1 more source

Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish [PDF]

, 2019
Han, Shanshan, Hu, Xuebin, Huang, Yuwen, Jiang, Tao, Li, Jingzhen, Liu, Fei, Liu, Mugen, Liu, Xiliang, Lv, Yuexia, Qin, Yayun, Qu, Zhen, Reilly, James, Shu, Xinhua, Tang, Zhaohui, Tu, Jiayi, Xie, Shanglun, Yimer, Tinsae Assefa, Yu, Shanshan   +17 more
core   +1 more source

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2022
Wang J, Wang Y, Li S, Xiao X, Yi Z, Jiang Y, Li X, Jia X, Wang P, Jin C, Sun W, Zhang Q.   +11 more
europepmc   +1 more source

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. [PDF]

Invest Ophthalmol Vis Sci, 2022
Martin-Gutierrez MP, Schiff ER, Wright G, Waseem N, Mahroo OA, Michaelides M, Moore AT, Webster AR, Arno G, Genomics England Research Consortium.   +9 more
europepmc   +1 more source

Mitochondrial functional impairment in ARL3‐mutation related rod‐cone dystrophy

FASEB BioAdvances
Mitochondria are vital for retinal cell function and survival, and there is growing evidence linking mitochondrial dysfunction to retinal degenerations. Although ARL3 mutations have been linked to multiple forms of retinal degeneration, the relationship ...
Xiaoli Zhang, Shun Yao, Lujia Zhang, Beisi Zhang, Mingzhu Yang, Qingge Guo, Jin Xu, Zhongfeng Wang, Bo Lei, Xiuxiu Jin   +9 more
doaj   +1 more source

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. [PDF]

Int J Mol Sci, 2021
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM.   +19 more
europepmc   +1 more source