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JOURNAL ARTICLE
Tariq A Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad
PURPOSE: This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot-Marie-Tooth disease type 5. CASE REPORT: A 38-year-old female with bilaterally subnormal vision and non-congenital hearing loss was initially diagnosed with Usher syndrome, based on finding variants in three genes (MYO7A, USH2A, and PCDH15), was re-evaluated at the inherited retinal disorders clinic. She had asymmetric retinopathy and right macular pseudocoloboma...
April 15, 2024: Ophthalmic Genetics
#22
Raluca Eugenia Iorga, Răzvana Sorina Munteanu-Dănulescu, Ciprian Danielescu
Leber's hereditary optic neuropathy (LHON) is the most common maternally inherited disease linked to mitochondrial DNA (mtDNA). The patients present with subacute asymmetric bilateral vision loss. Approximately 95% of the LHON cases are caused by m.3460G>A ( MTND1 ), m.11778G>A ( MTND4 ), and m.14484T>C ( MTND6 ) mutations. The hallmark of hereditary optic neuropathies determined by mitochondrial dysfunction is the vulnerability and degeneration of retinal ganglion cells (RGC). We present the case of a 28-year-old man who came to our clinic complaining of a subacute decrease in visual acuity of his left eye...
2024: Romanian Journal of Ophthalmology
#23
JOURNAL ARTICLE
Divya Pidishetty, Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Vinay Kumar Pulimamidi, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan
Mutations in ABCA4 gene leads to the most common form of an inherited retinal disease namely, the Stargardt disease, type 1. Here, we report the generation of two different patient-specific induced pluripotent stem cell lines (LVPEIi007-B and LVPEIi008-B), carrying an identical homozygous mutation, (c.6088C>T) within the exon 44 of ABCA4 gene. These lines were generated by the reprogramming of patient-specific dermal fibroblasts, using the integration-free, Sendai viral vectors. Both lines were stably expanded and expressed the stemness and pluripotency markers, differentiated into cell types of all three germ layers, and maintained a normal karyotype...
April 9, 2024: Stem Cell Research
#24
JOURNAL ARTICLE
Kabir Ahluwalia, Zhaodong Du, Juan Carlos Martinez-Camarillo, Aditya Naik, Biju B Thomas, Dimitrios Pollalis, Sun Young Lee, Priyal Dave, Eugene Zhou, Zeyang Li, Catherine Chester, Mark S Humayun, Stan G Louie
Retinal degenerative diseases, including age-related macular degeneration and retinitis pigmentosa, significantly contribute to adult blindness. The Royal College of Surgeons (RCS) rat is a well-established disease model for studying these dystrophies; however, molecular investigations remain limited. We conducted a comprehensive analysis of retinal degeneration in RCS rats, including an immunodeficient RCS (iRCS) sub-strain, using ocular coherence tomography, electroretinography, histology, and molecular dissection using transcriptomics and immunofluorescence...
March 28, 2024: International Journal of Molecular Sciences
#25
REVIEW
Giulia Corradetti, Aditya Verma, Jasaman Tojjar, Louay Almidani, Deniz Oncel, Mehdi Emamverdi, Alec Bradley, Sophiana Lindenberg, Muneeswar Gupta Nittala, SriniVas R Sadda
Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown...
April 3, 2024: Journal of Clinical Medicine
#26
JOURNAL ARTICLE
Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
PURPOSE: Heterozygous variants of IMPDH1 are associated with autosomal dominant retinitis pigmentosa (adRP). The current study aims to investigate the characteristics of the adRP-associated variants. METHODS: IMPDH1 variants from our exome sequencing dataset were retrieved and systemically evaluated through multiple online prediction tools, comparative genomics (in-house dataset, HGMD, and gnomAD), and phenotypic association. Potential pathogenic variants (PPVs) were further confirmed by Sanger sequencing and segregation analysis...
April 11, 2024: Current Eye Research
#27
JOURNAL ARTICLE
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão
BACKGROUND: Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures. RESULTS: This study included 1082 patients from 973 families, aged 3 to 92 years, with a mean age of 44...
April 9, 2024: Orphanet Journal of Rare Diseases
#28
JOURNAL ARTICLE
Alen T Eid, Kevin Toni Eid, James Vernon Odom, David Hinkle, Monique Leys
Purpose: Mutations in Topoisomerase I-binding RS protein (TOPORS) have been previously documented and have been described to result in pathological autosomal dominant retinitis pigmentosa (adRP). In our study, we describe the various genotypes and clinical/phenotypic manifestations of TOPORS-related mutations of our unique patient population in Rural Appalachia. Methods: The medical records of 416 patients with inherited retinal disease at the West Virginia University Eye Institute who had undergone genetic testing between the years of 2015-2022 were reviewed...
March 5, 2024: Journal of Clinical Medicine
#29
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Pallavi Bagga, Bernardo Mendes, Mital Shah, Paula Burke, David Parry, Siying Lin, Gunjan Naik, Biraja Ghoshal, Bart Liefers, Dun Jack Fu, Michalis Georgiou, Quang Nguyen, Alan Sousa da Silva, Yichen Liu, Yu Fujinami-Yokokawa, Nathaniel Kabiri, Dayyanah Sumodhee, Praveen Patel, Jennifer Furman, Ismail Moghul, Juliana Sallum, Samantha R De Silva, Birgit Lorenz, Frank Holz, Kaoru Fujinami, Andrew R Webster, Omar Mahroo, Susan M Downes, Savita Madhusuhan, Konstantinos Balaskas, Michel Michaelides, Nikolas Pontikos
PURPOSE: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients. DESIGN: Retrospective study of imaging data (55-degree blue-FAF on Heidelberg Spectralis) from patients. PARTICIPANTS: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone FAF 55-degree imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital (RLH) between 2004 and 2019...
March 28, 2024: medRxiv
#30
JOURNAL ARTICLE
Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina M Lamey, Jennifer A Thompson, Terri L McLaren, Fred K Chen, Samuel McLenachan
Inherited retinal diseases (IRDs) are a heterogeneous group of blinding genetic disorders caused by pathogenic variants in genes expressed in the retina. In this study, we sought to develop a method for rapid evaluation of IRD gene variant pathogenicity by inducing expression of retinal genes in patient-derived fibroblasts using CRISPR-activation (CRISPRa). We demonstrate CRISPRa of CRB1 expression in fibroblasts derived from patients with retinitis pigmentosa, enabling investigation of pathogenic mechanisms associated with specific variants...
April 5, 2024: CRISPR Journal
#31
JOURNAL ARTICLE
Busra Ozguc Caliskan, Kubra Uslu, Neslihan Sinim Kahraman, Kuddusi Erkilic, Ayse Oner, Munis Dundar
This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next-generation sequencing (NGS) with Illumina NextSeq-500...
April 4, 2024: Clinical Genetics
#32
JOURNAL ARTICLE
Alexis Ceecee Britten-Jones, Myra B McGuinness, Fred K Chen, John R Grigg, Heather G Mack, Lauren N Ayton
Amidst rapid advancements in ocular gene therapy, understanding patient perspectives is crucial for shaping future treatment choices and research directions. This international cross-sectional survey evaluated knowledge, attitudes, and perceptions of ocular genetic therapies among potential recipients with inherited retinal diseases (IRDs). Survey instruments included the Attitudes to Gene Therapy-Eye (AGT-Eye), EQ-5D-5L, National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25), and Patient Attitudes to Clinical Trials (PACT-22) instruments...
April 2, 2024: Gene Therapy
#33
JOURNAL ARTICLE
Ruiqiong Yang, Ling Hui, Chuan Zhang, Qinghua Zhang, Yupei Wang, Shengju Hao
OBJECTIVE: To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP). METHODS: A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis...
April 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#34
JOURNAL ARTICLE
Rebeca A S Amaral, Olivia A Zin, Remo T Moraes, Fernanda B O Porto, Pedro C Carricondo, Sergio L G Pimentel, Bernardo P Kestelman, Sung E S Watanabe, Juliana M F Sallum
BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP , posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light...
April 1, 2024: Ophthalmic Genetics
#35
JOURNAL ARTICLE
Lasse Wolfram, Clara Gimpel, Melanie Schwämmle, Simon J Clark, Daniel Böhringer, Günther Schlunck
Alterations in the structure and composition of Bruch's membrane (BrM) and loss of retinal pigment epithelial (RPE) cells are associated with various ocular diseases, notably age-related macular degeneration (AMD) as well as several inherited retinal diseases (IRDs). We explored the influence of stiffness as a major BrM characteristic on the RPE transcriptome and morphology. ARPE-19 cells were plated on soft ( <mml:math xmlns:mml="https://www.w3.org/1998/Math/MathML"><mml:mrow><mml:mi>E</mml:mi> <mml:mo>=</mml:mo> <mml:mn>30</mml:mn> <mml:mspace/> <mml:mtext>kPa</mml:mtext></mml:mrow> </mml:math> ) or stiff ( <mml:math xmlns:mml="https://www...
March 29, 2024: Scientific Reports
#36
JOURNAL ARTICLE
Akanksha Roy, Jiaming Zhou, Merijn Nolet, Charlotte Welinder, Yu Zhu, François Paquet-Durand, John Groten, Tushar Tomar, Per Ekström
Inherited retinal degenerative diseases (IRDs) are a group of rare diseases that lead to a progressive loss of photoreceptor cells and, ultimately, blindness. The overactivation of cGMP-dependent protein kinase G (PKG), one of the key effectors of cGMP-signaling, was previously found to be involved in photoreceptor cell death and was studied in murine IRD models to elucidate the pathophysiology of retinal degeneration. However, PKG is a serine/threonine kinase (STK) with several hundred potential phosphorylation targets and, so far, little is known about the specificity of the target interaction and downstream effects of PKG activation...
March 19, 2024: International Journal of Molecular Sciences
#37
JOURNAL ARTICLE
Janya Grainok, Ianthe L Pitout, Fred K Chen, Samuel McLenachan, Rachael C Heath Jeffery, Chalermchai Mitrpant, Sue Fletcher
Retinitis pigmentosa 11 is an untreatable, dominantly inherited retinal disease caused by heterozygous mutations in pre-mRNA processing factor 31 PRPF31 . The expression level of PRPF31 is linked to incomplete penetrance in affected families; mutation carriers with higher PRPF31 expression can remain asymptomatic. The current study explores an antisense oligonucleotide exon skipping strategy to treat RP11 caused by truncating mutations within PRPF31 exon 12 since it does not appear to encode any domains essential for PRPF31 protein function...
March 16, 2024: International Journal of Molecular Sciences
#38
REVIEW
Aleksandra Czarnek-Chudzik, Mario Damiano Toro, Robert Rejdak, Katarzyna Nowomiejska
Neuroplasticity is a complex process that is heightened during time-sensitive periods of pre- and postnatal brain development. It continues, albeit to a lesser extent, throughout adolescence and young adulthood. Congenital visual deprivation is well-known and explored in human-model behavioral research. In this study, we review existing research on neuroadaptations and neuroplasticity of the visual pathway as a result of inherited retinal diseases (IRD), focusing on data concerning congenital bilateral visual deprivation in humans published in PubMed in the past 5 years, including 18 articles...
March 20, 2024: Journal of Clinical Medicine
#39
JOURNAL ARTICLE
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H F Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37...
March 19, 2024: Biomolecules
#40
JOURNAL ARTICLE
Manzar Ashtari, Jean Bennett, David A Leopold
Genetic diseases affecting the retina can result in partial or complete loss of visual function. Leber's Congenital Amaurosis (LCA) is a rare blinding disease, usually inherited in an autosomally recessive manner, with no cure. Retinal gene therapy has been shown to improve vision in LCA patients caused by mutations in the RPE65 gene (LCA2). However, little is known about how activity in central visual pathways is affected by the disease or by subsequent gene therapy. Functional MRI was used to assess retinal signal transmission in cortical and subcortical visual structures before and one year after retinal intervention...
March 27, 2024: Brain
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