Results 11 to 20 of about 429,850 (164)

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

Unilateral retinitis pigmentosa and cone-rod dystrophy

Clinical Ophthalmology, 2009
Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj   +1 more source

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

ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study.

JAMA Ophthalmol
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 ...
Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, Audo I.   +13 more
europepmc   +2 more sources

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

EBioMedicine, 2021
Inherited retinal diseases (IRDs) were first classified clinically by history, ophthalmoscopic appearance, type of visual field defects, and electroretinography (ERG).
Alexandra V. Garafalo, Rebecca Sheplock, Alexander Sumaroka, Alejandro J. Roman, Artur V. Cideciyan, Samuel G. Jacobson   +5 more
doaj   +1 more source

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Scientific Reports, 2022
Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of ...
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra   +15 more
doaj   +1 more source

, 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

The origins of the full-field flash electroretinogram b-wave

Frontiers in Molecular Neuroscience, 2023
The electroretinogram (ERG) measures the electrical activity of retinal neurons and glial cells in response to a light stimulus. Amongst other techniques, clinicians utilize the ERG to diagnose various eye diseases, including inherited conditions such as
Yashvi Bhatt, Yashvi Bhatt, David M. Hunt, David M. Hunt, Livia S. Carvalho, Livia S. Carvalho   +5 more
doaj   +1 more source

Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

eLife, 2021
The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy ...
Domino K Schlegel, Srinivasagan Ramkumar, Johannes von Lintig, Stephan CF Neuhauss   +3 more
doaj   +1 more source

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Gordon T. Plant, Plant, GT, Petzold, A, Axel Petzold   +3 more
core   +1 more source