Results 11 to 20 of about 10,452 (214)

GNB1-Related Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs).
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran   +6 more
doaj   +2 more sources

Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology, 2018
Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy.
Jocelyn Lam, Bradley Sifrig, Hoon Jung
doaj   +2 more sources

Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration [PDF]

Neuron, 1997
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII). Analysis of the proband from a family with autosomal dominant CORD revealed an Arg41Trp substitution in
Swain, Prabodha K, Chen, Shiming, Wang, Qing-Liang, Affatigato, Louisa M, Coats, Caraline L, Brady, Kevin D, Fishman, Gerald A, Jacobson, Samuel G, Swaroop, Anand, Stone, Edwin, Sieving, Paul A, Zack, Donald J   +11 more
openaire   +3 more sources

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   +4 more sources

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Clinical Ophthalmology, 2013
Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory ...
Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y   +5 more
doaj   +1 more source

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice. [PDF]

Genes (Basel), 2023
Mutations in the mouse microphthalmia-associated transcription factor (Mitf) gene affect retinal pigment epithelium (RPE) differentiation and development and can lead to hypopigmentation, microphthalmia, deafness, and blindness.
García-Llorca A, Ólafsson KH, Sigurdsson AT, Eysteinsson T.   +3 more
europepmc   +2 more sources

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

Int J Mol Sci, 2021
International audienceVariants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD).
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   +2 more sources

, a candidate gene for non‐syndromic rod‐cone dystrophy [PDF]

, 2021
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss.
Emmenegger, L, Leveillard, T, Marion Neuillé, Michiels, Christelle, Demontant, Vanessa, Vanessa Demontant, Christina Zeitz, Pierce, EA, Zeitz, C, Mohand-Saïd, Saddek, Zeitz, Christina, José‐Alain Sahel, Sahel, José-Alain, Eric A. Pierce, Emmenegger, Lisa, Lancelot, M-E, Neuillé, Marion, Neuille, M, Sahel, J-A, Bhattacharya, Shom Shanker, Marie‐Elise Lancelot, Maria Solaguren‐Beascoa, Condroyer, C, Wassila Carpentier, Letexier, M, Kinga M. Bujakowska, Saddek Mohand‐Saïd, Carpentier, Wassila, Carpentier, W, Solaguren-Beascoa, María, Elise Orhan, Orhan, Elise, Solaguren-Beascoa, M, Saraiva, J-P, Shomi S. Bhattacharya, Lancelot, Marie-Elise, Mohand-Said, S, Michiels, C, Audo, I, Christine Lonjou, Bhattacharya, SS, Christelle Michiels, Condroyer, Christel, Bujakowska, Kinga, Mejecase, C, Antonio, Aline, Lisa Emmenegger, Jean‐Paul Saraiva, Hélène Dollfus, Christel Condroyer, Méjécase, Cécile, Antonio, A, Aline Antonio, Orhan, E, Demontant, V, Isabelle Audo, Letexier, Mélanie, Lonjou, Christine, Bujakowska, KM, Mélanie Letexier, Audo, Isabelle, Cécile Méjécase, Dollfus, H, Saraiva, Jean-Paul, Dollfus, Hélène, Thierry Léveillard, Léveillard, Thierry, Lonjou, C, Pierce, Eric A.   +68 more
core   +1 more source

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 ...
Leming Fu, Ya Li, Shun Yao, Qingge Guo, Ya You, Xianjun Zhu, Bo Lei, Bo Lei   +7 more
doaj   +1 more source

Mizuo‐Nakamura phenomenon in cone‐rod dystrophy [PDF]

Australasian journal of optometry, The, 2017
Neha Goel, Itika Garg
exaly   +3 more sources