Results 71 to 80 of about 431,670 (160)

ATXN7-Related Cone-Rod Dystrophy

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 ...
Drine, Karima, Hilab, Rania, Blanchard, Benoit, Lane, Roger, Arnold, H. Moore, Tezenas du Montcel, Sophie, Coarelli, Giulia, Sancho, Serge, Audo, Isabelle, Durr, Alexandra, Nassisi, Marco, Junge, Candice, Dubec-Fleury, Charlotte, Kitic, Nicolas   +13 more
core   +1 more source

A new genetic locus for X linked progressive cone-rod dystrophy [PDF]

, 2003
X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have been previously identified.
Bech-Hansen, T, Tyynismaa, H, Demirci, FY, Meindl, A, Gorin, MB, Jalkanen, R, Peippo, M, Mäntyjärvi, M, Alitalo, T   +8 more
core   +2 more sources

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
van Wijk, Erwin, van den Born, L. Ingeborgh, Neveling, Kornelia, Roosing, Susanne, Ueffing, Marius, van Beersum, Sylvia E.C., de Baere, Elfride, Lamers, Ideke J.C., Coppieters, Frauke, Arts, Heleen H., de Vrieze, Erik, Klaver, Caroline C.W., Kremer, Hannie, Lugtenberg, Dorien, Hetterschijt, Lisette, Peters, Theo A., Zonneveld-Vrieling, Marijke N., Letteboer, Stef J.F., Boldt, Karsten, Lambertus, Stanley, Koolen, David A., van Reeuwijk, Jeroen, Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I., Roepman, Ronald   +25 more
core   +3 more sources

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, Volume 104, Issue 6, Page 616-637, September 2026.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

ABCA4-related retinopathies in Lebanon

Heliyon
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies.
Mariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Said El Shamieh   +4 more
doaj   +1 more source

Phenotypic characteristics of rod-cone dystrophy associated with MYO7A mutations in a large french cohort

, 2020
PURPOSE: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. METHODS: Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive ...
José-Alain Sahel, Petit, Christine, Condroyer, Christel, Marco Nassisi, Christina Zeitz, Antonio, Aline, Bodaghi, Bahram, Roux, Anne-Françoise, Zeitz, Christina, Devisme, Céline, Camille Andrieu, Bahram Bodaghi, Saddek Mohand-Saïd, Natalie Loundon, Khateb, Samer, Christel Condroyer, Nassisi, Marco, Aline Antonio, Isabelle Audo, Marlin, Sandrine, Mohand-Saïd, Saddek, Céline Devisme, Sandrine Marlin, Andrieu, Camille, Loundon, Natalie, Bonnet, Crystel, Anne-Françoise Roux, Audo, Isabelle, Samer Khateb, Christine Petit, Sahel, José-Alain, Crystel Bonnet   +31 more
core   +1 more source

The metal ion binding protein Cnnm4 is mutated in rod-cone dystrophy/amelogenesis imperfecta syndrome

, 2009
Purpose:To identify the gene causing rod-cone dystrophy/amelogenesis imperfecta Methods:Homozygosity mapping was performed using the Affymetrix 50K XbaI array in one family and candidate genes in the linked interval were sequenced with ABI Dye ...
Polok, B., Mégarbane, A., Favez, T., Hamel, C., Ambresin, A., Munier, F.L., Voirol, N., Escher, Pascal, Bolay, S., Schorderet, D.F.   +9 more
core  

Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function [PDF]

, 2014
Purpose: We report a psychophysical investigation of five observers with the retinal disorder "cone dystrophy with supernormal rod ERG", caused by mutations in the gene KCNV2 that encodes a voltage-gated potassium channel found in rod and cone ...
Moore, AT, Michaelides, M, Cammack, J, Webster, AR, Henning, B, Ripamonti, C, Stockman, A   +6 more
core  

The phenotypic variability of HK1-associated retinal dystrophy

Scientific Reports, 2017
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen   +12 more
doaj   +1 more source

Retinitis Pigmentosa - Rod Dystrophy

, 2014
PowerPoint discussing retinitis pigmentosa, rod dystrophy. Retinitis Pigmentosa is a generalized retinal dystrophy with peripheral rather than central onset Primarily rod-cone dystrophy.
Gregory P. Van Stavern, MD
core