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JOURNAL ARTICLE
Katarina Stingl, Claudia Priglinger
No abstract text is available yet for this article.
March 2024: Klinische Monatsblätter Für Augenheilkunde
#22
JOURNAL ARTICLE
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María Del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María Del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data...
2024: Frontiers in Cell and Developmental Biology
#23
REVIEW
Xun Chen, Steffen Johannes Keller, Philipp Hafner, Asma Y Alrawashdeh, Thomas Yul Avery, Johana Norona, Jinxue Zhou, Dietrich Alexander Ruess
Encoded by PTPN11 , the Src-homology 2 domain-containing phosphatase 2 (SHP2) integrates signals from various membrane-bound receptors such as receptor tyrosine kinases (RTKs), cytokine and integrin receptors and thereby promotes cell survival and proliferation. Activating mutations in the PTPN11 gene may trigger signaling pathways leading to the development of hematological malignancies, but are rarely found in solid tumors. Yet, aberrant SHP2 expression or activation has implications in the development, progression and metastasis of many solid tumor entities...
2024: Frontiers in Immunology
#24
REVIEW
Jane Moseley, Tim Leest, Kristina Larsson, Armando Magrelli, Violeta Stoyanova-Beninska
Inherited Retinal Dystrophies (IRD) are diverse rare diseases that affect the retina and lead to visual impairment or blindness. Research in this field is ongoing, with over 60 EU orphan medicinal products designated in this therapeutic area by the Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency (EMA). Up to now, COMP has used traditional disease terms, like retinitis pigmentosa, for orphan designation regardless of the product's mechanism of action. The COMP reviewed the designation approach for IRDs taking into account all previous Orphan Designations (OD) experience in IRDs, the most relevant up to date scientific literature and input from patients and clinical experts...
March 18, 2024: European Journal of Ophthalmology
#25
JOURNAL ARTICLE
Lukas Mees, Mingyi Li, Bani Antonio-Aguirre, T Y Alvin Liu, Adela Wu, Xiangrong Kong, Mandeep S Singh
OBJECTIVE OR PURPOSE: In this study, we aimed to characterize the frequency and distribution of ocular surgeries in patients with inherited retinal diseases (IRDs) and evaluate associated patient and disease factors. DESIGN: Retrospective cohort. PARTICIPANTS: Subjects 18 years and older who were followed at the Johns Hopkins Genetic Eye Disease (GEDi) Center. METHODS: We studied a retrospective cohort of patients with an IRD diagnosis to analyze the occurrence of laser and incisional surgeries...
March 12, 2024: Ophthalmology Retina
#26
Hongmin Xi, Lili Ma, Xiangyun Yin, Ping Yang, Xianghong Li, Liangliang Li
X-linked intellectual developmental disorder is a rare X-linked genetic disease, manifested as heart disease, intellectual impairment, and developmental disorders. We report a male infant who presented with dyspnea after birth. Physical examination on admission revealed poor responsiveness, deep eye sockets, a small mandible, abnormalities of the outer ears, and reduced limb muscle tone. The child was moaning with shortness of breath and a positive three-concave sign without pulmonary rales. The heart sounds were weak with a grade 2/6 diastolic heart murmur...
March 2024: Molecular Genetics and Metabolism Reports
#27
JOURNAL ARTICLE
Peter Kiraly, M Dominik Fischer
INTRODUCTION: We describe a case of cystoid macular oedema associated with combination treatment using a STING agonist and ezabenlimab for disseminated melanoma. CASE REPORT: A 66-year-old male patient presented with worsening vision and cystoid macular oedema in the right eye, along with a small accumulation of subretinal fluid in the left eye. The patient has been undergoing treatment for melanoma since 2014. Five months prior to the ocular presentation, the patient was enrolled in a first-in-human trial with a STING agonist and ezabenlimab...
March 11, 2024: Ophthalmology and Therapy
#28
JOURNAL ARTICLE
X L Zhu, B N Zhang, L X Xie
Adeno-associated virus (AAV) vectors have been widely employed in gene therapy for ocular and systemic diseases. However, clinical trial outcomes have indicated that gene therapy may trigger severe adverse events associated with immune-inflammatory reactions, thereby impacting the safety and efficacy of gene therapy. The immune-inflammatory reaction induced after gene therapy in the eye is referred to as gene therapy-associated uveitis, which has become a major obstacle limiting the long-term and effective use of ocular gene therapy...
March 11, 2024: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
#29
JOURNAL ARTICLE
Jikui Shen, Raquel Lima E Silva, Mingliang Zhang, Kathryn M Luly, Sean F Hackett, Stephany Y Tzeng, Shirley M Lowmaster, Sydney R Shannon, David R Wilson, Jordan J Green, Peter A Campochiaro
Suprachoroidal nonviral gene therapy with biodegradable poly(β-amino ester) nanoparticles (NPs) provides widespread expression in photoreceptors and retinal pigmented epithelial (RPE) cells and therapeutic benefits in rodents. Here, we show in a human-sized minipig eye that suprachoroidal injection of 50 μl of NPs containing 19.2 μg of GFP expression plasmid caused GFP expression in photoreceptors and RPE throughout the entire eye with no toxicity. Two weeks after injection of 50, 100, or 200 μl, there was considerable within-eye and between-eye variability in expression that was reduced 3 months after injection of 200 μl and markedly reduced after three suprachoroidal injections at different locations around the eye...
March 8, 2024: Science Advances
#30
REVIEW
Jennifer Lynn Ford, Eleni Karatza, Hardik Mody, Prathap Nagaraja Shastri, Sana Khajeh Pour, Tong-Yuan Yang, Michael Swanson, Daniel Chao, Damayanthi Devineni
Adeno-associated virus (AAV) vector-based gene therapy is an innovative modality being increasingly investigated to treat diseases by modifying or replacing defective genes or expressing therapeutic entities. With its unique anatomic and physiological characteristics, the eye constitutes a very attractive target for gene therapy. Specifically, the ocular space is easily accessible and is generally considered "immune-privileged" with a low risk of systemic side effects following local drug administration. As retina cells have limited cellular turnover, a one-time gene delivery has the potential to provide long-term transgene expression...
March 7, 2024: Clinical Pharmacology and Therapeutics
#31
JOURNAL ARTICLE
Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone
INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 ( SMN1 ) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma® , Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown. METHODS: This longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of SMN2 aged 1...
2024: Frontiers in Neurology
#32
JOURNAL ARTICLE
Da Sun, Wenyu Sun, Song-Qi Gao, Jonathan Lehrer, Hong Wang, Ryan Hall, Zheng-Rong Lu
OBJECTIVE: Current gene therapy of inherited retinal diseases is achieved mainly by subretinal injection, which is invasive with severe adverse effects. Intravitreal injection is a minimally invasive alternative for gene therapy of inherited retinal diseases. This work explores the efficacy of intravitreal delivery of PEGylated ECO (a multifunctional pH-sensitive amphiphilic amino lipid) plasmid DNA (pGRK1-ABCA4-S/MAR) nanoparticles (PEG-ELNP) for gene therapy of Stargardt disease. METHODS: Pigmented Abca4-/- knockout mice received 1 µL of PEG-ELNP solution (200 ng/uL, pDNA concentration) by intravitreal injections at an interval of 1...
March 5, 2024: Pharmaceutical Research
#33
JOURNAL ARTICLE
Sean T Berkowitz, Avni P Finn
PURPOSE OF REVIEW: The landscape for age-related macular degeneration (AMD) is rapidly changing with addition of biosimilars and now United States Food and Drug Administration (FDA) approved nonneovascular AMD (nnAMD) treatment options. These developments have inspired a burgeoning pipeline of gene therapy approaches focused on similar antivascular endothelial growth factors (VEGF) and complement related pathways. Historic and more recent setbacks in the gene therapy pipeline, including intraocular inflammatory reactions, have raised important concerns for adverse events related to AMD therapeutics both for gene and nongene approaches...
March 5, 2024: Current Opinion in Ophthalmology
#34
JOURNAL ARTICLE
Asmaa A Zidan, Shuyan Zhu, Elsayed Elbasiony, Sheyda Najafi, Zhirong Lin, Rohan Bir Singh, Amirreza Naderi, Jia Yin
Calcitonin gene-related peptide (CGRP) is a multifunctional neuropeptide abundantly expressed by corneal nerves. Using a murine model of corneal mechanical injury, we found CGRP levels in the cornea significantly reduced after injury. Topical application of CGRP as an eye drop accelerates corneal epithelial wound closure, reduces corneal opacification, and prevents corneal edema after injury in vivo. CGRP promotes corneal epithelial cell migration, proliferation, and the secretion of laminin. It reduces TGF-β1 signaling and prevents TGF-β1-mediated stromal fibroblast activation and tissue fibrosis...
March 4, 2024: Communications Biology
#35
JOURNAL ARTICLE
Nenita Maganti, Gordon S Crabtree, Jonathan S Chang, Kathleen R Schildroth
PURPOSE: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by uncontrolled proliferation of granulocytes, caused the BCR-ABL1 fusion gene. While ocular manifestations of CML are rare, the presentations can range from asymptomatic to sudden vision loss. CML associated ocular findings that have been reported include retinal hemorrhages, leukemic infiltrates, and optic disc edema, but a rhegmatogenous retinal detachment (RRD) in the setting of CML has not been described...
March 4, 2024: Retinal Cases & Brief Reports
#36
JOURNAL ARTICLE
Byron L Lam, Mark E Pennesi, Christine N Kay, Sushil Panda, James A Gow, Guolin Zhao, Robert E MacLaren
PURPOSE: Cotoretigene toliparvovec (BIIB112/AAV8-RPGR) is an investigational vector-based gene therapy designed to provide a full-length, codon-optimized, retinitis pigmentosa GTPase regulator (RPGR) protein to individuals with RPGR-associated X-linked retinitis pigmentosa (XLRP). We assessed efficacy and safety of cotoretigene toliparvovec subretinal gene therapy. DESIGN: Part 2 of the XIRIUS trial (NCT03116113) was a Phase 2/3, 12-month, randomized (1:1:1), dose-expansion study...
February 27, 2024: Ophthalmology
#37
JOURNAL ARTICLE
Priya Vakharia, David Eichenbaum
PURPOSE OF REVIEW: Geographic atrophy (GA) from age-related macular degeneration (AMD) remains a leading cause of vision loss. The purpose of this review is to summarize currently available intravitreal therapeutics, and discuss pipeline therapeutics that are currently in clinical trials. RECENT FINDINGS: The FDA approval of pegcetacoplan and avacincaptad pegol, both approved in 2023, represent the first therapeutics to treat GA. These are delivered via intravitreal injections, and have been shown to slow progression of GA...
February 29, 2024: Current Opinion in Ophthalmology
#38
JOURNAL ARTICLE
Marco Nassisi, Giulia Coarelli, Benoit Blanchard, Charlotte Dubec-Fleury, Karima Drine, Nicolas Kitic, Serge Sancho, Rania Hilab, Sophie Tezenas du Montcel, Candice Junge, Roger Lane, H Moore Arnold, Alexandra Durr, Isabelle Audo
IMPORTANCE: Reliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. OBJECTIVE: To identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers. DESIGN, SETTING, AND PARTICIPANTS: This article presents baseline data from a cross-sectional natural history study conducted in Paris, France, reference centers for rare diseases from May 2020 to April 2021...
February 29, 2024: JAMA Ophthalmology
#39
JOURNAL ARTICLE
Xiangyun Yin, Sophia Zhang, Ju Hyun Lee, Huiping Dong, George Mourgkos, Gordon Terwilliger, Aurora Kraus, Luiz Henrique Geraldo, Mathilde Poulet, Suzanne Fischer, Ting Zhou, Farrah Shalima Mohammed, Jiangbing Zhou, Yongfu Wang, Seth Malloy, Nicolas Rohner, Lokesh Sharma, Irene Salinas, Anne Eichmann, Jean-Leon Thomas, W Mark Saltzman, Anita Huttner, Caroline Zeiss, Aaron Ring, Akiko Iwasaki, Eric Song
The eye, an anatomical extension of the central nervous system (CNS), exhibits many molecular and cellular parallels to the brain. Emerging research demonstrates that changes in the brain are often reflected in the eye, particularly in the retina1 . Still, the possibility of an immunological nexus between the posterior eye and the rest of the CNS tissues remains unexplored. Here, studying immune responses to herpes simplex virus in the brain, we observed that intravitreal immunization protects mice against intracranial viral challenge...
February 28, 2024: Nature
#40
JOURNAL ARTICLE
Masaru Takashima, Masaya Nagaya, Yoshihiro Takamura, Masaru Inatani, Masaya Oki
Cataract is an eye disease, in which the lens becomes opaque, causing vision loss and blindness. The detailed mechanism of cataract development has not been characterized, and effective drug therapies remain unavailable. Here, we investigated the effects of Hypoxia-inducible factor 1 (HIF-1) inhibitors using an ex vivo model, in which rat lenses were cultured in galactose-containing medium to induce opacity formation. We found that treatment with the HIF-1 inhibitors 2-Methoxyestradiol (2ME2), YC-1, and Bavachinin decreased lens opacity...
2024: PloS One
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