Article
Genetics & Heredity
Hyeong-Min Kim, Kwangsic Joo, Jinu Han, Se-Joon Woo
Summary: This study investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Different genetic mutations were found to be associated with different types of CSNB, and 10 novel variants were identified. Further studies with a larger number of subjects are needed to explore the clinical and genetic aspects of CSNB.
Review
Ophthalmology
Christina Zeitz, Jerome E. Roger, Isabelle Audo, Christelle Michiels, Nuria Sanchez-Farias, Juliette Varin, Helen Frederiksen, Baptiste Wilmet, Jacques Callebert, Marie-Laure Gimenez, Nassima Bouzidi, Frederic Blond, Xavier Guilllonneau, Stephane Fouquet, Thierry Leveillard, Vasily Smirnov, Ajoy Vincent, Elise Heon, Jose-Alain Sahela, Barbara Kloeckener-Gruissemi, Florian Sennlaub, Catherine W. Morgansj, Robert M. Duvoisinj, Andrei V. Tkatchenko, Serge Picaud
Summary: Myopia is a common eye disorder caused by genetic and environmental factors. High myopia is often associated with rare inherited retinal disorders. Genes involved in myopia are related to various biological processes, including eye development, matrix organization, visual perception, circadian rhythms, and retinal signaling. Animal models mimicking myopia can help identify candidate genes implicated in human myopia. Complete congenital stationary night blindness represents an interesting model for studying myopia and retinal signaling defects. Transcriptome analysis in mouse models of cCSNB identified new candidate genes for myopia. Integration of transcriptomic data and genome-wide association studies provides insights into the potential mechanisms underlying myopia development in cCSNB subjects. These findings have implications for the development of pharmacological therapies for myopia.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Angela H. Kim, Pei-Kang Liu, Yin-Hsi Chang, Eugene Yu-Chuan Kang, Hung-Hsuan Wang, Nelson Chen, Yun-Ju Tseng, Go Hun Seo, Hane Lee, Laura Liu, An-Ning Chao, Kuan-Jen Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Stephen H. Tsang, Meng-Chang Hsiao, Nan-Kai Wang
Summary: This study describes the clinical characteristics and genetic testing results of seven patients with CSNB in Taiwan, and discusses the significance of these findings for the molecular etiology and genotype-phenotype correlation of CSNB. Some novel variants identified in this study have not been described in previous research, but further study is needed to determine their clinical significance. The future of gene therapy for CSNB patients is also reviewed and discussed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Keiko Miyadera, Evelyn Santana, Karolina Roszak, Sommer Iffrig, Meike Visel, Simone Iwabe, Ryan F. Boyd, Joshua T. Bartoe, Yu Sato, Alexa Gray, Ana Ripolles-Garcia, Valerie L. Dufour, Leah C. Byrne, John G. Flannery, William A. Beltran, Gustavo D. Aguirre
Summary: This study demonstrates the safe and effective targeting of ON-bipolar cells (ON-BCs) through AAV gene therapy in a naturally occurring canine model of congenital stationary night blindness (CSNB). By using AAV capsid variants with ON-BC tropism and ON-BC-specific modified GRM6 promoters, the researchers were able to successfully recover visual function and establish a translational platform for the treatment of CSNB.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Kate E. Leahy, Tom Wright, Monika K. Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J. Raymond Buncic, Ajoy Vincent
Summary: Hemizygous pathogenic variants in CACNA1F cause incomplete congenital stationary night blindness in humans by disrupting signal transmission in the retina. This study found that patients with CACNA1F-retinopathy exhibit reduced GCL-IPL thickness and disc pallor, independent of myopia, indicating potential implications for future treatment strategies.
Review
Genetics & Heredity
Tal T. Sadeh, Graeme C. Black, Forbes Manson
Summary: Calcium channels play a crucial role in cellular functions, and mutations in the high voltage-gated calcium channel family have implications for diseases such as malignant hyperthermia, QT syndromes, deafness, and congenital stationary night blindness. Understanding the specific mechanisms of each Cav1 channel is important for developing targeted therapeutic treatments, particularly for X-linked iCSNB.
FRONTIERS IN GENETICS
(2021)
Article
Physiology
Alexandra Koschak, Monica L. Fernandez-Quintero, Thomas Heigl, Marco Ruzza, Hartwig Seitter, Lucia Zanetti
Summary: Cav1.4 L-type Ca2+ channels, predominantly expressed in retinal neurons, play an essential role in continuous neurotransmitter release at ribbon synapses. Mutations in the CACNA1F gene encoding these channels are associated with X-linked retinal disorders. Research has shown the significance of Cav1.4 channels in synaptic function at retinal neurons.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
(2021)
Article
Veterinary Sciences
Yael L. Hack, Elizabeth E. Crabtree, Felipe Avila, Roger B. Sutton, Robert Grahn, Annie Oh, Brian Gilger, Rebecca R. Bellone
Summary: A genetic cause for congenital stationary night blindness (CSNB) in Tennessee Walking Horses was identified through whole-genome sequencing, revealing a missense mutation in the GRM6 gene. This mutation is predicted to be deleterious, affecting the signaling from retinal rod cells to ON-bipolar cells. The allele frequency of this variant in Tennessee Walking Horses is 10%.
EQUINE VETERINARY JOURNAL
(2021)
Article
Biochemistry & Molecular Biology
Elise Orhan, Marion Neuille, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, Jose-Alain Sahel, Isabelle Audo, Christina Zeitz
Summary: Mutations in GPR179 gene cause autosomal recessive complete congenital stationary night blindness (cCSNB), and a Gpr179 knock-out mouse model has been used to understand the pathogenic mechanism and develop therapeutic approaches. The knock-out mice exhibit reduced b-wave amplitudes in electroretinogram and decreased optomotor responses, indicating a disruption in signal transmission from photoreceptors to ON-bipolar cells. This new model provides insights into the role of GPR179 in patients with cCSNB and its potential for therapeutic development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Hafiz Muhammad Azhar Baig, Muhammad Ansar, Afia Iqbal, Muhammad Asif Naeem, Mathieu Quinodoz, Giacomo Calzetti, Muhammad Iqbal, Carlo Rivolta
Summary: This study identified new mutations associated with congenital stationary night blindness in four consanguineous families from the Southern Punjab region of Pakistan, and reported the presence of previously known mutations in the Pakistani population for the first time.
OPHTHALMIC RESEARCH
(2022)
Article
Genetics & Heredity
Usman Mahmood, Cecile Mejecase, Syed M. A. Ali, Mariya Moosajee, Igor Kozak
Summary: CACNA1F-related disorders consist of progressive and non-progressive conditions, including Angstrom Land Island eye disease and incomplete congenital stationary night blindness. A novel splice-site variant in the CACNA1F gene was identified in a 13-year-old boy, leading to phenotypic similarities with Angstrom Land Island eye disease and incomplete congenital stationary night blindness. This finding expands our understanding of CACNA1F-related diseases.
Article
Ophthalmology
Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie M. Ellingford, Christopher Campbell, Stuart Ingram, Kate Chandler, Neil R. A. Parry, Graeme C. Black, Panagiotis Sergouniotis
Summary: This study reports the clinical and genetic findings of 10 patients with TRPM1-retinopathy, a common cause of congenital stationary night blindness (CSNB). The study highlights the importance of comprehensive genomic analysis, beyond exons and protein-coding regions, for individuals with CSNB. It also suggests that a 15q13.3 microdeletion should be suspected in patients with CSNB and neurodevelopmental abnormalities.
ACTA OPHTHALMOLOGICA
(2022)
Article
Biochemistry & Molecular Biology
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, Jose Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz
Summary: Mutations in the GPR179 gene are a common cause of autosomal recessive complete congenital stationary night blindness (cCSNB). This study found that the absence of Gpr179 and the impaired ON-pathway may lead to myopic features in a mouse model of cCSNB. The altered dopaminergic system in Gpr179(-/-) mice is associated with an increased susceptibility to lens-induced myopia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Ophthalmology
Faris Almutairi, Nawaf Almeshari, Khabir Ahmad, Moustafa S. Magliyah, Patrik Schatz
Summary: Congenital stationary night blindness (CSNB) is a group of rare disorders of the retina, with an increasing number of genes being identified as causes. In Saudi Arabia, recessive mutations in TRPM1 and CABP4 are most common, associated with high myopia or hyperopia. Four novel mutations were discovered, and fundus albipunctatus was described for the first time in two patients, caused by mutations in RDH5 and RPE65. No cases of dominantly inherited CSNB were found.
ACTA OPHTHALMOLOGICA
(2021)
Article
Cardiac & Cardiovascular Systems
Wei Shi, Angel P. Scialdone, James I. Emerson, Liu Mei, Lauren K. Wasson, Haley A. Davies, Christine E. Seidman, Jonathan G. Seidman, Jeanette G. Cook, Frank L. Conlon
Summary: This study reveals that the CHD4 mutation can cause ventricular wall defects, and that ADAMTS1 can improve this defect by regulating the function of CHD4. This research enhances our understanding of heart development and provides a new therapeutic strategy for treating heart diseases.
CIRCULATION RESEARCH
(2023)
Review
Ophthalmology
Kai Yip Choi, Sonia Seen-Hang Chan, Henry Ho-Lung Chan
Summary: Myopia is a common refractive error that impacts over two billion people globally, with a higher prevalence among children in East Asian regions. In addition to genetic factors, environmental influences like near-work and outdoor activities play significant roles in myopia development. Visual cues from daily scenes, such as lighting and spatial frequency, are suggested to affect the progression of myopia.
CLINICAL AND EXPERIMENTAL OPTOMETRY
(2022)
Article
Medicine, General & Internal
Kai Yip Choi, Rachel Ka Man Chun, Wing Chun Tang, Chi Ho To, Carly Siu-Yin Lam, Henry Ho-Lung Chan
Summary: During the COVID-19 lockdown period, myopia progressed more rapidly in schoolchildren. However, optical treatment with DIMS was significantly associated with slower myopia progression compared with SVL treatment during the lockdown period.
Article
Nanoscience & Nanotechnology
Shiyao Wang, Ailin Qin, Li Yin Chau, Eunice W. T. Fok, Mei Yue Choy, Christopher J. Brackman, Gilman K. H. Siu, Chien-Ling Huang, Shea Ping Yip, Thomas M. H. Lee
Summary: Loop-mediated isothermal amplification (LAMP) has received substantial attention for decentralized nucleic acid testing due to its simple temperature control and short assay time. However, the existing amplification result reporter probes have limitations. This study demonstrates a new reporter probe based on CdSeS/ ZnS quantum dots with superior photostability, enabling single-copy sensitivity. The amine-QD-based one-step LAMP assay advances the field of QD-based nucleic acid amplification assays by achieving compatibility and universality.
ACS APPLIED MATERIALS & INTERFACES
(2022)
Article
Ophthalmology
Rita W. M. Sum, Tina J. X. Lian, Maurice K. H. Yap
Summary: The healthcare voucher system for older people has positively impacted the utilization of optometry services, but there are still barriers such as lack of familiarity with services, high fees, and prices of spectacles. Increasing price transparency of professional services and prescription spectacles could further improve access to healthcare services.
CLINICAL AND EXPERIMENTAL OPTOMETRY
(2023)
Article
Neurosciences
Jing Zheng, Wenqiu Zhang, Longqian Liu, Maurice Keng Hung Yap
Summary: The decline of visual plasticity restricts the recovery of visual functions in adult amblyopia. Repetitive transcranial magnetic stimulation (rTMS) has been shown to be effective in treating adult amblyopia by enhancing functional recovery and visual plasticity. This study found that low-frequency rTMS reinstated the amplitude of visual evoked potentials and increased the expression of synaptic plasticity genes and the number of dendritic spines in amblyopic rats. Furthermore, histological investigations revealed reduced levels of inhibition and perineuronal nets in the visual cortex.
FRONTIERS IN NEUROSCIENCE
(2023)
Review
Cell Biology
Yamunadevi Lakshmanan, Francisca Siu Yin Wong, Kwok-Fai So, Henry Ho-Lung Chan
Summary: Herbal extract Lycium barbarum polysaccharides have shown potential neuroprotective effects in glaucoma by reducing oxidative stress, modulating the immune response, enhancing neuronal responses, and promoting cytoprotection. They have been demonstrated to preserve retinal ganglion cells and their functions in various experimental models of optic neuropathies. Lycium barbarum polysaccharides appear to be a good candidate for developing as a neuroprotective agent for multifactorial diseases.
NEURAL REGENERATION RESEARCH
(2023)
Letter
Ophthalmology
Kai Yip Choi, Henry Ho-Lung Chan
OPHTHALMIC AND PHYSIOLOGICAL OPTICS
(2023)
Article
Medicine, General & Internal
Kai Yip Choi, Jimmy K. W. Cheung, Gigi T. K. Wong, Peter H. Li, Sonia S. H. Chan, Thomas C. Lam, Henry H. L. Chan
Summary: The study evaluated the myopia control efficacy and long-term safety of the Breath-O-Correct orthokeratology (OK) lens using a 2-year randomized, single-blind clinical trial. The results showed that the OK lens significantly reduced axial length elongation in schoolchildren without adverse clinical effects or subclinical inflammatory responses.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Ophthalmology
Wing Yan Lau, Qiuyan Liao, Jinxiao Lian, Maurice Yap
Summary: A qualitative study was conducted to identify the factors influencing the decision-making process of older adults to use the routine eye examination service. The study found that difficulty in prioritising and including the routine eye examination in the existing health service utilisation was a major barrier.
CLINICAL AND EXPERIMENTAL OPTOMETRY
(2023)
Article
Ophthalmology
Yamunadevi Lakshmanan, Francisca Siu Yin Wong, Henry Ho-Lung Chan
Summary: This study investigated the long-term effects of endothelin-1 (ET-1)-induced retinal pathologies in mice using clinically relevant tools. The results showed that ET-1 injection caused transient retinal arterial constriction, reduced retinal function, and gradual loss of retinal nerve fiber layer and retinal ganglion cells.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Multidisciplinary Sciences
Kai Yip Choi, Tsz Wing Leung, Henry Ho-Lung Chan
Summary: This study investigated the interaction between peripheral refractive error and living environment in relation to central refractive status in Hong Kong schoolchildren. The results showed that children with higher axial length to corneal radius of curvature ratios lived in smaller homes, had more hyperopic refractive errors, and less astigmatic peripheral refractive errors. Home size was found to be a significant moderator in the relationship between axial length to corneal radius of curvature ratios and astigmatism.
SCIENTIFIC REPORTS
(2023)
Article
Nanoscience & Nanotechnology
Shiyao Wang, Ailin Qin, Li Yin Chau, Eunice W. T. Fok, Mei Yue Choy, Christopher J. Brackman, Gilman K. H. Siu, Chien-Ling Huang, Shea Ping Yip, Thomas M. H. Lee
Summary: In this study, CdSeS/ZnS quantum dots with surface modification of cysteamine were used as a new reporter probe for LAMP, enabling single-copy sensitivity. The positively charged amine-QDs remained dispersed in negative LAMP samples, while they became precipitated in positive LAMP samples. This method has the advantages of compatibility and universality.
ACS APPLIED MATERIALS & INTERFACES
(2022)
Article
Psychology, Developmental
Tsz-wing Leung, Allen Ming-yan Cheong, Henry Ho-lung Chan
Summary: This review summarizes recent publications investigating the causal relationship of magnocellular theory in developmental dyslexia. It found that magnocellular-dorsal deficits are a cause, not a consequence, of reading difficulties. Training magnocellular-dorsal functions can improve reading skills in dyslexic children. This suggests that magnocellular-dorsal functions should be included in tests to identify children at risk of developmental dyslexia, but other factors should also be considered.
CURRENT DEVELOPMENTAL DISORDERS REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Sze Wan Shan, Pan Feng Wang, Jimmy Ka Wai Cheung, Fengjuan Yu, Hui Zheng, Shumeng Luo, Shea Ping Yip, Chi Ho To, Thomas Chuen Lam
Summary: This study examined the gene expression of the chicken retina during the early development of lens-induced myopia using whole transcriptome sequencing. The results suggest that concerted changes in retinal gene expression may play a key role in the initiation of axial elongation and myopia development.
Review
Clinical Neurology
Xiayin Yang, Xuefen Li, Mengying Lai, Jincui Wang, Shaoying Tan, Henry Ho-lung Chan
Summary: This article reviews the presence of pain symptoms in optic neuritis (ON) patients and discusses its association with underlying disorders such as multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein associated disease (MOGAD). It aims to assist physicians in differential diagnosis and provide recommendations for follow-up diagnostic examinations for ON patients.
FRONTIERS IN PAIN RESEARCH
(2022)