Results 111 to 120 of about 10,452 (214)

Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. [PDF]

Hum Mol Genet, 2023
Ripolles-Garcia A, Murgiano L, Ziolkowska N, Marinho FP, Roszak K, Iffrig S, Aguirre GD, Miyadera K.   +7 more
europepmc   +1 more source

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

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   +1 more source

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

Sci Rep, 2022
Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M.   +13 more
europepmc   +1 more source

Peripheral Cone Dystrophy: An Unusual and Rare Form of Cone Dystrophy

, 2014
Cone dystrophy refers to a group of disorders characterized by cone dysfunction and can subdivided into central and peripheral forms. Both are regional cone dystrophies where the cone system is predominately impaired with preservation of the rod system ...
Michael Vaphiades; Jennifer Doyle
core  

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

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

Cone rod dystrophy [PDF]

, 2020
openaire   +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

Shwachman-Diamond syndrome associated with rod-cone dystrophy

PURPOSE: To report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation. METHODS: Retrospective single case report.
de Guimaraes, Thales AC, Thompson, Dorothy, Zhang, Jingwen, Michaelides, Michel   +3 more
core