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MULTICENTER STUDY
Dongheon Surl, Dongju Won, Seung-Tae Lee, Christopher Seungkyu Lee, Junwon Lee, Hyun Taek Lim, Seung Ah Chung, Won Kyung Song, Min Kim, Sung Soo Kim, Saeam Shin, Jong Rak Choi, Riccardo Sangermano, Suk Ho Byeon, Kinga M Bujakowska, Jinu Han
IMPORTANCE: Despite advances in next-generation sequencing (NGS), a significant proportion of patients with inherited retinal disease (IRD) remain undiagnosed after initial genetic testing. Exome sequencing (ES) reanalysis in the clinical setting has been suggested as one method for improving diagnosis of IRD. OBJECTIVE: To investigate the association of clinician-led reanalysis of ES data, which incorporates updated clinical information and comprehensive bioinformatic analysis, with the diagnostic yield in a cohort of patients with IRDs in Korea...
May 1, 2024: JAMA Network Open
#2
REVIEW
A B I Perdamaian, R N Drupadi, E Aribowo, D K Paramita, M B Sasongko, S Supanji
INTRODUCTION: Inherited retinal dystrophy (IRD) is a group of untreated genetic ocular diseases that mostly affect young people. The number of patients with IRD worldwide, including in developing countries, is growing each year. This literature review aimed to investigate the current utilised genetic screening of IRD worldwide and to propose the most feasible genetics test and diagnostic method for IRD in developing countries, especially Indonesia. MATERIALS AND METHODS: A literature search was performed in PubMed and Google Scholar databases...
May 2024: Medical Journal of Malaysia
#3
JOURNAL ARTICLE
Roberta Zeuli, Marianthi Karali, Suzanne E de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D N Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P M Cremers, Sandro Banfi, Susanne Roosing
Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole genome sequencing (WGS) has been reported to improve this diagnostic rate by revealing elusive variants, such as structural variants (SVs) and deep intronic variants (DIVs)...
May 29, 2024: HGG advances
#4
JOURNAL ARTICLE
Chunwen Duan, Chengcheng Ding, Xihao Sun, Shengru Mao, Yuqin Liang, Xinyu Liu, Xiaoyan Ding, Jiansu Chen, Shibo Tang
BACKGROUND: X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood. Besides, animal models of XLRS have limitations in the study of XLRS. Here, we used human induced pluripotent stem cell (hiPSC)-derived retinal organoids (ROs) to investigate the disease mechanisms and potential treatments for XLRS. METHODS: hiPSCs reprogrammed from peripheral blood mononuclear cells of two RS1 mutant (E72K) XLRS patients were differentiated into ROs...
May 31, 2024: Stem Cell Research & Therapy
#5
REVIEW
Kristina Pfau Née Hess, Imre Lengyel, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, Sara Risseeuw, Georges Leftheriotis, Hendrik P N Scholl, Nicolas Feltgen, Frank G Holz, Maximilian Pfau
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor. The clinical phenotype of PXE is characterized by the effects of elastic fiber calcification in the skin, the cardiovascular system, and the eyes...
May 28, 2024: Progress in Retinal and Eye Research
#6
JOURNAL ARTICLE
Rabia Basharat, Suzanne E de Bruijn, Muhammad Zahid, Kim Rodenburg, Rebekkah J Hitti-Malin, María Rodríguez-Hidalgo, Erica G M Boonen, Afeefa Jarral, Arif Mahmood, Jordi Corominas, Sharqa Khalil, Jawaid Ahmed Zai, Ghazanfar Ali, Javier Ruiz-Ederra, Christian Gilissen, Frans P M Cremers, Muhammad Ansar, Daan M Panneman, Susanne Roosing
Inherited retinal dystrophies (IRDs) are characterized by photoreceptor dysfunction or degeneration. Clinical and phenotypic overlap between IRDs makes the genetic diagnosis very challenging and comprehensive genomic approaches for accurate diagnosis are frequently required. While there are previous studies on IRDs in Pakistan, causative genes and variants are still unknown for a significant portion of patients. Therefore, there is a need to expand the knowledge of the genetic spectrum of IRDs in Pakistan. Here, we recruited 52 affected and 53 normal individuals from 15 consanguineous Pakistani families presenting non-syndromic and syndromic forms of IRDs...
May 28, 2024: Experimental Eye Research
#7
REVIEW
Kiyoharu J Miyagishima, Fengyu Qiao, Steven F Stasheff, Francisco M Nadal-Nicolás
Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder primarily affecting children and adolescents characterized by multisystemic clinical manifestations. Mutations in neurofibromin, the protein encoded by the Nf1 tumor suppressor gene, result in dysregulation of the RAS/MAPK pathway leading to uncontrolled cell growth and migration. Neurofibromin is highly expressed in several cell lineages including melanocytes, glial cells, neurons, and Schwann cells. Individuals with NF1 possess a genetic predisposition to central nervous system neoplasms, particularly gliomas affecting the visual pathway, known as optic pathway gliomas (OPGs)...
May 9, 2024: Vision
#8
JOURNAL ARTICLE
Blake M Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios G Vavvas, Jason Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Gaurav D Gaiha, Elizabeth J Rossin
Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a potential therapeutic modality for a disease-causing variant such as inherited retinal disease (IRD). Here, we apply structure-based network analysis (SBNA), which has been successfully utilized to identify variant-constrained amino acid residues in viral proteins, to identify residues that may cause IRD if subject to missense mutation...
May 27, 2024: NPJ Genomic Medicine
#9
JOURNAL ARTICLE
Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Samer Khateb, Eyal Banin, Dror Sharon
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases which cause visual loss due to Mendelian mutations in over 250 genes, making genetic diagnosis challenging and time-consuming. Here, we developed a new tool, CDIP (Cost-effective Deep-sequencing IRD Panel) in which a simultaneous sequencing of common mutations is performed. CDIP is based on simultaneous amplification of 47 amplicons harboring common mutations followed by next-generation sequencing (NGS). Following five rounds of calibration of NGS-based steps, CDIP was used in 740 IRD samples...
May 20, 2024: Genes
#10
JOURNAL ARTICLE
Banu Bozkurt, Ramazan Güler, Ebru Marzioğlu Özdemir, Deniz Esin, Şaban Gönül
A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia...
2024: Journal of Pediatric Ophthalmology and Strabismus
#11
JOURNAL ARTICLE
Jin Gwack, Namsu Kim, Joonhong Park
Numerous hereditary ophthalmic diseases display significant genetic diversity. Consequently, the utilization of gene panel sequencing allows a greater number of patients to receive a genetic diagnosis for their clinical manifestations. We investigated how to improve the yield of genetic diagnosis through additional gene panel sequencing in hereditary ophthalmic diseases. A gene panel sequencing consisting of a customized hereditary retinopathy panel or hereditary retinitis pigmentosa (RP) panel was prescribed and referred to a CAP-accredited clinical laboratory...
May 20, 2024: Current Issues in Molecular Biology
#12
COMPARATIVE STUDY
Eva D'haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martínez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfride De Baere
BACKGROUND: Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal expression within these interconnected retinal components through the local recruitment of cis-regulatory elements (CREs) in 3D nuclear space. RESULTS: To understand the role of differential chromatin architecture in establishing tissue-specific expression at inherited retinal disease loci, we mapped genome-wide chromatin interactions using in situ Hi-C and H3K4me3 HiChIP on neural retina and RPE/choroid from human adult donor eyes...
May 17, 2024: Genome Biology
#13
JOURNAL ARTICLE
Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, Amir Zag, Ygal Rotenstreich, Tomer Poleg, Ohad S Birk, Libe Gradstein, Miriam Ehrenberg, Iris Deitch, Eedy Mezer, Idan Hecht, Eran Pras, Dan Ramon, Samer Khateb, Dinah Zur, Hadas Newman, Rawan Kharouba, Nitza Goldenberg-Cohen, Rina Leibu, Shiri Soudry, Ido Perlman, Eyal Banin, Dror Sharon
IMPORTANCE: Data regarding the prevalence of various inherited retinal diseases (IRDs) are limited and vary across populations; moreover, nationwide prevalence studies may be limited to a specific IRD phenotype, potentially leading to inaccurate prevalence estimations. Therefore, nationwide prevalence data are needed. OBJECTIVE: To determine the prevalence of 67 IRD phenotypes in the Israeli population. DESIGN, SETTING, AND PARTICIPANTS: This cohort study collected nationwide data regarding the number of individuals affected with IRD phenotypes assessed in 10 clinical and academic centers in Israel as part of the research activity of the Israeli inherited retinal disease consortium...
May 16, 2024: JAMA Ophthalmology
#14
JOURNAL ARTICLE
Elyse M Salpeter, Ala Moshiri, Michelle Ferneding, Monica J Motta, Sangwan Park, Chrisoula Skouritakis, Sara M Thomasy
PURPOSE: Non-human primates (NHPs) are useful models for human retinal disease. Chromatic pupillometry has been proposed as a noninvasive method of identifying inherited retinal diseases (IRDs) in humans; however, standard protocols employ time-consuming dark adaptation. We utilized shortened and standard dark-adaptation protocols to compare pupillary light reflex characteristics following chromatic stimulation in rhesus macaques with achromatopsia to wild-type (WT) controls with normal retinal function...
June 1, 2023: Translational Vision Science & Technology
#15
Michelle L Brinkmeier, Su Qing Wang, Hannah Pittman, Leonard Y Cheung, Lev Prasov
UNLABELLED: Myelin regulatory factor (Myrf) is a critical transcription factor in early retinal and retinal pigment epithelial development, and human variants in MYRF are a cause for nanophthalmos. Single cell RNA sequencing (scRNAseq) was performed on Myrf conditional knockout mice ( Rx>Cre Myrf fl/fl ) at 3 developmental timepoints. Myrf was expressed specifically in the RPE, and expression was abrogated in Rx>Cre Myrf fl/fl eyes. scRNAseq analysis revealed a loss of RPE cells at all timepoints resulting from cell death...
April 29, 2024: bioRxiv
#16
Xiaoyi Li, Miloslav Sedlacek, Amurta Nath, Klaudia P Szatko, William N Grimes, Jeffrey S Diamond
UNLABELLED: Many inherited retinal diseases target photoreceptors, which transduce light into a neural signal that is processed by the downstream visual system. As photoreceptors degenerate, physiological and morphological changes to retinal synapses and circuitry reduce sensitivity and increase noise, degrading visual signal fidelity. Here, we pharmacologically targeted the first synapse in the retina in an effort to reduce circuit noise without sacrificing visual sensitivity. We tested a strategy to partially replace the neurotransmitter lost when photoreceptors die with an agonist of receptors that ON bipolars cells use to detect glutamate released from photoreceptors...
April 30, 2024: bioRxiv
#17
JOURNAL ARTICLE
Zuying Chai, Yaqing Ye, Daniel Silverman, Kasey Rose, Alana Madura, Randall R Reed, Jeannie Chen, King-Wai Yau
Congenital stationary night blindness (CSNB) is an inherited retinal disease that causes a profound loss of rod sensitivity without severe retinal degeneration. One well-studied rhodopsin point mutant, G90D-Rho, is thought to cause CSNB because of its constitutive activity in darkness causing rod desensitization. However, the nature of this constitutive activity and its precise molecular source have not been resolved for almost 30 y. In this study, we made a knock-in (KI) mouse line with a very low expression of G90D-Rho (equal in amount to ~0...
May 21, 2024: Proceedings of the National Academy of Sciences of the United States of America
#18
MULTICENTER STUDY
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Enid S Chelva, Sean Armstrong, Jose S Pulido, Rebecca Procopio, Andrea L Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P Marques, Sara Geada, Ana L Carvalho, Wei C Tang, Choi M Chan, Camiel J F Boon, Jonathan Hensman, Ta-Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John R Grigg, Robyn V Jamieson, Elisa E Cornish, Benjamin M Nash, Shyamanga Borooah, Lauren N Ayton, Alexis Ceecee Britten-Jones, Thomas L Edwards, Jonathan B Ruddle, Abhishek Sharma, Rowan G Porter, Tina M Lamey, Terri L McLaren, Samuel McLenachan, Danial Roshandel, Fred K Chen
PURPOSE: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene. METHODS: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes...
May 1, 2024: Investigative Ophthalmology & Visual Science
#19
JOURNAL ARTICLE
Yimin Wang, Tong Li, Suqin Yu, Yuanyuan Gong, Min Zhang, Yidong Wu, Wenjia Liu, Junran Sun, Jieqiong Chen, Xiaodong Sun
PURPOSE: To further explore the influence of genotype, including mutation type and structural domain, on the severity of macular atrophy, we measured the central retinal thickness (CRT) in patients with ABCA4-related retinopathy. METHODS: A total of 66 patients were included in the cohort. This was a retrospective investigation. The patients were tested using whole exon sequencing and ophthalmic exams, including slip lamp exams, best-corrected visual acuity, optical coherence tomography, fundus photo, and fundus autofluorescence...
May 13, 2024: Eye
#20
JOURNAL ARTICLE
Trong Thuan Ung, Christopher R Starr, Assylbek Zhylkibayev, Irina Saltykova, Marina Gorbatyuk
Inherited retinal degeneration (RD) constitutes a heterogeneous group of genetic retinal degenerative disorders. The molecular mechanisms underlying RD encompass a diverse spectrum of cellular signaling, with the unfolded protein response (UPR) identified as a common signaling pathway chronically activated in degenerating retinas. TRIB3 has been recognized as a key mediator of the PERK UPR arm, influencing various metabolic pathways, such as insulin signaling, lipid metabolism, and glucose homeostasis, by acting as an AKT pseudokinase that prevents the activation of the AKT → mTOR axis...
April 26, 2024: International Journal of Molecular Sciences
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