Results 41 to 50 of about 15,202 (200)

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability

Frontiers in Ophthalmology
IntroductionTo report a Japanese family with inherited retinal dystrophy (IRD) in which CDHR1 variants were identified, and to characterize the marked intrafamilial phenotypic variability.MethodsThis retrospective case series included three brothers ...
Toshiaki Hirakata, Dan Gao, Minami Oshima, Fumihiro Hara, Shintaro Nakao, Akira Murakami   +5 more
doaj   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Journal of Ophthalmic & Vision Research, 2020
Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP
Hamideh Sabbaghi, Hamid Ahmadieh, Jalil Jalili, Nazanin Behnaz, Maryam Fakhri, Fatemeh Suri, Bahareh Kheiri, Mojtaba Rajabpour, Morteza Entezari, Narsis Daftarian   +9 more
doaj   +1 more source

A nonhuman primate model of inherited retinal disease. [PDF]

, 2019
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively.
Artemyev, Nikolai O, Boyd, Kimberly, Cameron, Ashley, Chen, Rui, Davis, Sarah, Garzel, Laura, Gopalakrishna, Kota N, Harris, R Alan, Huang, Yijun, Kim, Soohyun, Li, Yumei, Liang, Qingnan, Moshiri, Ala, Murphy, Christopher J, Pomerantz, Ori, Raveendran, Muthuswamy, Roberts, Jeffrey, Rogers, Jeffrey, Stout, J Timothy, Thomasy, Sara M, Wang, Jun, Yiu, Glenn   +21 more
core  

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. [PDF]

, 2016
Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence
Colavito, Davide, Leon, Alberta, Miotto, Stefania, Piermarocchi, Stefano, Segato, Tatiana   +4 more
core   +1 more source

Chromosome 19q Cone-Rod Retinal Dystrophy

Archives of Ophthalmology, 1995
To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy.A detailed clinical examination including Goldmann perimetry was undertaken in all family members. Six members under the age of 30 years underwent dark-
Evans, Kevin, Duvall-Young, Josephine, Fitzke, Fred W., Arden, Geoffrey B., Bhattacharya, Shom Shanker, Bird, Alan C.   +5 more
openaire   +3 more sources

Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration. [PDF]

, 2019
PurposeTo assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally.MethodsHigh-resolution images of the retina were obtained using adaptive optics scanning laser ophthalmoscopy from ...
Bensinger, Ethan, Duncan, Jacque L, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Rinella, Nicholas, Roorda, Austin, Saud, Asma   +9 more
core  

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

npj Genomic Medicine
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ...
Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi   +48 more
doaj   +1 more source