Article
Cell Biology
Amanda Miles, Clarke Blair, Andrew Emili, Vincent Tropepe
Summary: This study discovered the association between the USH1 gene pcdh15b and retinopathy in zebrafish model, revealing that defects in rod and cone photoreceptors will lead to vision impairment.
DISEASE MODELS & MECHANISMS
(2021)
Review
Biochemistry & Molecular Biology
Carla Fuster-Garcia, Belen Garcia-Bohorquez, Ana Rodriguez-Munoz, Elena Aller, Teresa Jaijo, Jose M. Millan, Gema Garcia-Garcia
Summary: Usher syndrome is a genetic disorder characterized by hearing loss, retinitis pigmentosa, and sometimes vestibular dysfunction. It is caused by mutations in multiple genes which interact to form a protein network, and these mutations can affect various tissues leading to diverse symptoms associated with the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Evan M. de Joya, Brett M. Colbert, Pei-Ciao Tang, Byron L. Lam, Jun Yang, Susan H. Blanton, Derek M. Dykxhoorn, Xuezhong Liu
Summary: Hearing loss is a common sensory disorder affecting approximately 466 million people worldwide, with a significant portion being genetic. Usher syndrome is a syndromic form of genetic hearing loss that is often accompanied by retinitis pigmentosa and vestibular dysfunction. Currently, cochlear implantation or hearing aids are the main treatment options for Usher-related hearing loss.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Talah T. Wafa, Rabia Faridi, Kelly A. King, Christopher Zalewski, Rizwan Yousaf, Julie M. Schultz, Robert J. Morell, Julie Muskett, Amy Turriff, Ekaterini Tsilou, Andrew J. Griffith, Thomas B. Friedman, Wadih M. Zein, Carmen C. Brewer
Summary: Usher syndrome has been traditionally categorized into three classical types based on patient phenotype, but the relationship between vestibular phenotype and Usher gene mutations is not definitive. Research shows that patients with different Usher syndrome types may exhibit varying vestibular dysfunctions, contrary to classical assumptions. Therefore, vestibular phenotyping data may not reliably differentiate between Usher syndrome types.
Review
Biotechnology & Applied Microbiology
Qianyu Lin, Qiong Guo, Mingchao Zhu, Juanli Zhang, Bei Chen, Tingting Wu, Wei Jiang, Wenxue Tang
Summary: The treatment of inner ear disorders is a challenging task for researchers, but nanotechnology provides an innovative approach to improve inner ear therapy. This review discusses various nanotechnology-based drug delivery systems for treating inner ear diseases and explores the factors influencing the therapeutic efficacy of nanomaterials.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Multidisciplinary Sciences
Huang Wang, Haibo Du, Rui Ren, Tingting Du, Lin Lin, Zhe Feng, Dange Zhao, Xiaoxi Wei, Xiaoyan Zhai, Hongyang Wang, Tingting Dong, Jin-Peng Sun, Hao Wu, Zhigang Xu, Qing Lu
Summary: In this study, the authors demonstrate that LLPS of the quaternary USH2 protein complex initiates the formation of stereociliary ankle link condensates, providing insights into the pathogenesis of deafness.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Irene Y. Y. Szeto, Daniel K. H. Chu, Peikai Chen, Ka Chi Chu, Tiffany Y. K. Au, Keith K. H. Leung, Yong-Heng Huang, Sarah L. Wynn, Angel C. Y. Mak, Ying-Shing Chan, Wood Yee Chan, Ralf Jauch, Bernd Fritzsch, Mai Har Sham, Robin Lovell-Badge, Kathryn S. E. Cheah
Summary: This study investigates the in vivo mechanisms of dominant syndromes caused by mutations in SOX9 and SOX10 transcription factors. The results show that SOX9(Y440X) mutation causes deafness through distinct mechanisms in the endolymphatic sac/duct and cochlea, while conditional heterozygous Sox9-null mice are normal. Additionally, the study reveals the role of SOX9 in regulating Sox10 and the cooperation between these factors in the normal functioning of the endolymphatic system.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Neurosciences
W. Blake Gilmore, Nan W. Hultgren, Abhishek Chadha, Sonia B. Barocio, Joyce Zhang, Oksana Kutsyr, Miguel Flores-Bellver, M. Valeria Canto-Soler, David S. Williams
Summary: In this study, the two retinal isoforms of MYO7A, IF1 and IF2, were examined for their roles in Usher syndrome type 1B. The expression of IF2 was found to be typically 7-fold greater than IF1, suggesting its potential significance. These findings emphasize the importance of targeting both the RPE and the neural retina in gene therapy strategies for USH1B.
Article
Health Care Sciences & Services
Esra' O. Taybeh, Abdallah Y. Naser
Summary: The prevalence of inner ear disease-related hearing loss is rising due to increased medication usage, noise exposure, and life expectancy. This study investigated the profile of hospital admissions linked to inner ear diseases in England and Wales. The admissions significantly increased over the past two decades, particularly among females and the middle-aged population.
Review
Pharmacology & Pharmacy
Derek S. Delaney, Lawrence J. Liew, Joey Lye, Marcus D. Atlas, Elaine Y. M. Wong
Summary: Despite progress in the development of therapeutics for hearing loss, drug delivery to the middle and inner ear remains challenging. Localized delivery and controlled release therapeutics are emerging as potential solutions, but invasive procedures limit continuous drug delivery. This review discusses the challenges in drug development for hearing disorders and explores novel drug delivery approaches, including hydrogel and nanotechnology-based therapeutics and device-mediated delivery methods.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Chemistry, Multidisciplinary
Sunho Park, Yeon Ju Kim, Harshita Sharma, Dream Kim, Yonghyun Gwon, Woochan Kim, Sangbae Park, Cheol Woo Ha, Yun-Hoon Choung, Jangho Kim
Summary: In this study, the use of graphene oxide (GO) as a nanomaterial-based approach for enhancing inner ear organoids (IEOs) was proposed. GO was found to promote hair cell formation and show potential applications in drug testing. This nanomaterial-based approach may offer a reliable and effective method for building better IEOs in the future.
Review
Audiology & Speech-Language Pathology
Elizabeth M. Keithley
Summary: The inner ear interacts with the immune system to protect itself from infections and acoustic trauma. Resident macrophages are present in the adult mammalian inner ear and participate in immune responses. Bacterial infections and noise trauma can induce immune cell influx into the inner ear.
Article
Ophthalmology
Tian Zhu, De-Fu Chen, Lei Wang, Shijing Wu, Xing Wei, Hui Li, Zi-Bing Jin, Ruifang Sui
Summary: This study investigated the USH2A gene variant profile and genotype-phenotype correlation in Chinese patients with non-syndromic retinitis pigmentosa or Usher syndrome type II. The research identified novel variants in the USH2A gene, showing that patients with USH2 had more truncating variants and earlier decline in visual function. These findings enhance understanding of USH2A heterogeneity and provide valuable information for future therapies.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Multidisciplinary Sciences
Hisaya Tanioka, Sayaka Tanioka
Summary: This study aims to create a technique for 3D microanatomical images of the otolith and otolith organs in order to investigate their in vivo internal state and metabolisms. The images were reconstructed using a cutting-plane method and showed various morphologies, reflecting the balance status of each subject. The imaging technique allows detailed observations of changes in physiological and biological information, contributing to the understanding of pathology and calcium metabolism in the in vivo vestibulum.
SCIENTIFIC REPORTS
(2021)
Article
Ophthalmology
Yuhong Gan, Xiongze Zhang, Yongyue Su, Mei Shen, Yuting Peng, Feng Wen
Summary: This study compared the performance of optical coherence tomography angiography (OCTA) and dye angiography in detecting and evaluating choroidal neovascularisation (CNV) in punctate inner choroidopathy (PIC). The results showed that OCTA had high diagnostic accuracy and could provide morphological information of CNV to determine its activity. Although OCTA cannot replace dye angiography, it can serve as a feasible method for monitoring and guiding treatment decisions for patients with CNV secondary to PIC.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Rupesh Agrawal, Pearse A. Keane, Jasmin Singh, Zubin Saihan, Andreas Kontos, Carlos E. Pavesio
ACTA OPHTHALMOLOGICA
(2016)
Article
Ophthalmology
Ling Zhi Heng, Sobha Sivaprasad, Roxanne Crosby-Nwaobi, Zubin Saihan, Mike Karampelas, Catey Bunce, Tunde Peto, Philip G. Hykin
BRITISH JOURNAL OF OPHTHALMOLOGY
(2016)
Article
Biochemistry & Molecular Biology
Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J. Coffey, Heather B. Steele-Stallard, Anthony T. Moore, Karen P. Steel, Linda M. Luxon, Elise Heon, Maria Bitner-Glindzicz, Andrew R. Webster
EUROPEAN JOURNAL OF HUMAN GENETICS
(2015)
Letter
Ophthalmology
Malavika Subash, Hiten G. Sheth, Zubin Saihan, Gordon T. Plant
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2010)
Article
Ophthalmology
Eva Lenassi, Zubin Saihan, Maria Bitner-Glindzicz, Andrew R. Webster
EXPERIMENTAL EYE RESEARCH
(2014)
Article
Genetics & Heredity
Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B. Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P. Steel, Linda M. Luxon, Andrew R. Webster, Maria Bitner-Glindzicz
JOURNAL OF MEDICAL GENETICS
(2012)
Article
Ophthalmology
Rupesh Agrawal, Peter Addison, Zubin Saihan, Maria Pefkianaki, Carlos Pavesio
OCULAR IMMUNOLOGY AND INFLAMMATION
(2015)
Article
Ophthalmology
Rupesh Agrawal, Pearse A. Keane, Jasmin Singh, Zubin Saihan, Andreas Kontos, Carlos E. Pavesio
OCULAR IMMUNOLOGY AND INFLAMMATION
(2016)
Article
Ophthalmology
Eva Lenassi, Zubin Saihan, Valentina Cipriani, Polona Le Quesne Stabej, Anthony T. Moore, Linda M. Luxon, Maria Bitner-Glindzicz, Andrew R. Webster
Article
Ophthalmology
Zubin Saihan, Polona Le Quesne Stabej, Anthony G. Robson, Nell Rangesh, Graham E. Holder, Anthony T. Moore, Karen P. Steel, Linda M. Luxon, Maria Bitner-Glindzicz, Andrew R. Webster
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2011)
Review
Ophthalmology
Beatrice Gallo, Samantha R. de Silva, Omar A. Mahroo, Zubin Saihan, Praveen J. Patel, Jonathan G. Dowler, Carlos Pavesio, Pearse A. Keane, Adnan Tufail, Mandeep S. Sagoo
Summary: Choroidal macrovessels exhibit diverse features on various imaging modalities, which can aid in accurate diagnosis and prevent underdiagnosis.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Edward Bloch, Blanca Flores-Sanchez, Odysseas Georgiadis, Venki Sundaram, Zubin Saihan, Omar A. Mahroo, Andrew R. Webster, Lyndon da Cruz
Summary: Stellate nonhereditary idiopathic foveomacular retinoschisis is a condition characterized by splitting of the retina at the macula without a known underlying cause. This study found an association between this condition and peripheral retinoschisis, as well as abnormal or incomplete detachment of the posterior hyaloid. While central visual function remains largely unaffected, there can be significant loss of peripheral visual function in individuals with this condition.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2021)
Review
Ophthalmology
M. Pilar Martin-Gutierrez, Axel Petzold, Zubin Saihan
Summary: The purpose of this article is to provide a comprehensive review of non-arteritic anterior ischaemic optic neuropathy and its phenocopies, focusing on the current evidence for the different aetiopathogenic hypotheses. Due to limited responses of neural tissue and retinal structures, different mechanisms may result in a similar clinical picture. Clinicians must differentiate among similar pathologies affecting the optic nerve to avoid unnecessary diagnostic procedures.
Article
Ophthalmology
Anthony G. Robson, Eva Lenassi, Zubin Saihan, Vy A. Luong, Fred W. Fitzke, Graham E. Holder, Andrew R. Webster
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2012)
Article
Biochemistry & Molecular Biology
Z. Saihan, Z. Li, J. Rice, N. A. Rana, S. Ramsden, P. G. Schlottmann, S. A. Jenkins, C. Blyth, G. C. Black, N. McKie, A. R. Webster
