Article
Ophthalmology
Laura Kuehlewein, Torsten Strasser, Gunnar Blumenstock, Katarina Stingl, M. Dominik Fischer, Barbara Wilhelm, Eberhart Zrenner, Bernd Wissinger, Susanne Kohl, Nicole Weisschuh, Ditta Zobor
Summary: This study describes the natural course of disease progression in patients with PDE6A-associated arRP, and establishes a detailed genotype-phenotype correlation. The severity of different disease-causing PDE6A mutations in humans with respect to central visual function was ranked, and the small annual decline rates in central retinal function may pose challenges in assessing treatment efficacy in interventional trials.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P. M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schaeferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Summary: This study investigated the phenotypic and genotypic features of retinitis pigmentosa associated with PDE6B gene variants, with most mutations being splicing defects and missense mutations. 43% of the PDE6B variants found in patients were novel, contributing to the mutation spectrum of PDE6B.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Ophthalmology
Feng-Juan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Jian-Kang Li, Wei Liu, Sheng-Hai Zhang, Ge-Zhi Xu, Ji-Hong Wu
Summary: The study found that EYS-RD typically onset during adolescence and exhibits moderate variability in phenotype. This research significantly enhances our knowledge of the phenotypic and genotypic characteristics of EYS-RDS, paving the way for improved management of these patients.
Article
Genetics & Heredity
Katarzyna Nowomiejska, Katarzyna Baltaziak, Paulina Calka, Marzanna Ciesielka, Grzegorz Teresinski, Robert Rejdak
Summary: The goal of this study was to explore the spectrum of pathogenic variants in the RPGR gene in male Polish patients with retinitis pigmentosa. The study found 2 pathogenic and 5 likely pathogenic variants in 8 patients (18%), with 5 of the variants being novel and 5 being identified in the ORF15 mutational hotspot of the RPGR gene. The majority of patients had visual field constriction and thinning of the central foveal thickness. Dizygotic twins with the same mutation showed different retinal phenotypes, indicating variations in symptom severity.
Article
Biochemistry & Molecular Biology
Kitako Tabata, Eriko Sugano, Akito Hatakeyama, Yoshito Watanabe, Tomoya Suzuki, Taku Ozaki, Tomokazu Fukuda, Hiroshi Tomita
Summary: The study demonstrated that retinal ganglion cells were photosensitive after the transduction of optogenetic genes and did not induce any phototoxicity following exposure to continuous light.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimaraes Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Summary: The pathogenicity of the USH2A c.2276 G > T variant as a common cause of autosomal recessive retinitis pigmentosa was confirmed through genetic and functional analyses. A zebrafish model was generated to validate the findings. This study has significant implications for genetic diagnosis and future treatment options for this disease.
NPJ GENOMIC MEDICINE
(2022)
Review
Genetics & Heredity
Chitra Kannabiran, Deepika Parameswarappa, Subhadra Jalali
Summary: This review discusses the genetic studies on retinitis pigmentosa in India and neighboring South Asian countries. These populations have been understudied in this aspect, but efforts have been made to identify the genetic characteristics of RP in Indian families and large extended families from Pakistan. The extreme clinical and genetic heterogeneity of RP poses challenges in identifying associated genes and translating research findings for better disease management.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Brian G. Ballios, Emily M. Place, Luis Martinez-Velazquez, Eric A. Pierce, Jason I. Comander, Rachel M. Huckfeldt
Summary: Sector and pericentral forms of hereditary retinitis pigmentosa are rare, and studies suggest that they may have distinct disease spectra. Analysis of a specific genotype revealed a wide phenotypic range in patients, with significant intrafamilial variability in phenotype. Long-term follow-up showed good prognosis for central visual acuity in the absence of macular disease, but disease progression over extended periods was observed.
Article
Biochemistry & Molecular Biology
Nina Kobal, Tjasa Krasovec, Maja Sustar, Marija Volk, Borut Peterlin, Marko Hawlina, Ana Fakin
Summary: Mutations in the rhodopsin gene (RHO) are a common cause of retinitis pigmentosa (RP) and congenital stationary night blindness (CSNB). A study screening 60 patients with mutation p.G90D revealed that 53.3% of patients developed RP, contrary to previous reports. The clinical characteristics did not show significant associations with family, sex, or age, except for cystoid macular edema being observed in only one family.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Olivier Mercey, Corinne Kostic, Eloise Bertiaux, Alexia G. Giroud, Yashar Sadian, David C. A. Gaboriau, Ciaran Morrison, Ning Chang, Yvan Arsenijevic, Paul Guichard, Virginie Hamel
Summary: Inherited retinal degeneration caused by the loss of photoreceptor cells is a major cause of human blindness. This study uses expansion microscopy and electron microscopy to uncover the molecular architecture of the connecting cilium (CC) and reveals that microtubules are connected by a CC inner scaffold containing POC5, CENTRIN, and FAM161A. The disruption of Fam161a leads to the loss of the CC inner scaffold, triggering microtubule doublet spreading and ultimately resulting in outer segment collapse and photoreceptor degeneration.
Review
Genetics & Heredity
Junxing Yang, Lin Zhou, Jiamin Ouyang, Xueshan Xiao, Wenmin Sun, Shiqiang Li, Qingjiong Zhang
Summary: The study revealed that most pathogenic variants of RPGR are truncations, with missense and in-frame variants mainly located in the RCC1-like domain. Significant differences were found in best corrected visual acuity (BCVA) and refractive error between male and female carriers. Age increase and ORF15 variants contribute to the reduction of BCVA in male patients.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
David P. Vaughan, Daniel J. Costello
Summary: PCARP is a rare genetic condition caused by variants in the FLVCR1 gene, presenting with retinitis pigmentosa, ataxia, and learning disabilities. In a case report, a young female patient was diagnosed with retinitis pigmentosa in childhood and later developed progressive ataxia.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Yi-Dan Liu, Shu-Shu Huang, Mei Li, Monkol Lek, Dan-Yu Song, Dan-Dan Tan, Xiao-Yu Chen, Hong Zhang, Jie-Yu Liu, Xing-Zhi Chang, Hui Xiong
Summary: This study reported a Chinese patient with RP, cataracts, intellectual disability, and myopathy, and identified compound heterozygous mutations in the RDH11 gene. Furthermore, immunofluorescence staining revealed mislocalization of RDH11 protein in the patient's muscle cells.
Article
Ophthalmology
Joao Pedro Marques, Rosa Pinheiro, Ana Luisa Carvalho, Miguel Raimundo, Mario Soares, Pedro Melo, Joaquim Murta, Jorge Saraiva, Rufino Silva
Summary: This study describes the genetic spectrum, retinal phenotypes, and pRNFL thickness in a cohort of Caucasian RPGR-mutation heterozygotes. The results show that clinically severe phenotypes are not uncommon among female carriers, and provide novel insights into pRNFL changes observed in RPGR heterozygotes that mimic what has been reported in male patients.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: Variants in PRPH2 were analyzed in this study using online prediction tools and large datasets. Ten pathogenic or likely pathogenic variants were identified in 14 families, with p.G305Afs*19 being the most frequent variant. The study proposed novel insights into the genotype-phenotype correlation of PRPH2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Fatima Sofia Magana-Guerrero, Diana Hinojosa Trujillo, Beatriz Buentello-Volante, Jose Eduardo Aguayo-Flores, Edgar Alonso Melgoza-Gonzalez, Jesus Hernandez, Maria C. Jimenez-Martinez, Sonia Mayra Perez-Tapia, Yonathan Garfias
Summary: During the COVID-19 pandemic, healthcare workers are at a high risk of being infected with SARS-CoV-2, especially those in ophthalmology departments. A study conducted in Mexico City found that 32% of HCWs at an Ophthalmological Reference Centre tested RT-PCR positive, with 20% presenting IgG antibodies against SARS-CoV-2. Despite the high infection rate, most HCWs showed mild symptoms, and a significant portion of RT-PCR positive participants did not show IgG antibodies.
OPHTHALMIC EPIDEMIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Stephen R. Russell, Arlene Drack, Artur Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach
Summary: The translation content introduces the results of a clinical trial on the treatment of CEP290-associated LCA10 with sepofarsen. Although patients experienced ocular adverse events in the treated eye, the lower dose group showed a better benefit-risk profile. The trial results suggest that the use of sepofarsen may improve patients' visual acuity and retinal sensitivity.
Review
Endocrinology & Metabolism
Sheng-Yin Chen, Jui-Yi Chen, Wei-Chieh Huang, Troy Hai Kiat Puar, Peng Chin Kek, Jeff S. Chueh, Yen-Hung Lin, Vin-Cent Wu
Summary: This study compared the long-term cardiovascular and mortality outcomes of patients with primary aldosteronism treated with adrenalectomy and mineralocorticoid receptor antagonists (MRA). The results showed that adrenalectomy was associated with a lower incidence of all-cause mortality and major adverse cardiovascular events. Adrenalectomy should be considered as the preferred treatment for patients with primary aldosteronism.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Review
Peripheral Vascular Disease
Wei-Chieh Huang, Yen-Hung Lin, Vin-Cent Wu, Chen-Huan Chen, Saulat Siddique, Yook-Chin Chia, Jam Chin Tay, Guruprasad Sogunuru, Hao-Min Cheng, Kazuomi Kario
Summary: Primary aldosteronism (PA) is a major risk factor for cardiovascular disease and is considered one of the most common causes of secondary hypertension. The diagnosis of PA involves screening, confirmatory testing, and subtype differentiation. Current guidelines recommend screening patients at an increased risk of PA.
JOURNAL OF CLINICAL HYPERTENSION
(2022)
Article
Ophthalmology
Yonathan Garfias, Fatima Sofia Magana-Guerrero, Beatriz Buentello-Volante, Itayetzin Beurini Cruz Vega, Ilse Islas-Castro, Paola de Jesus Sanchez Cisneros, Jose Eduardo Aguayo Flores, Angel Gustavo Salas Lais, Jose Esteban Munoz Medina, Veronica Mata-Haro, Monica Resendiz-Sandoval, Veronica A Vazquez-Garcia, Jesus Hernandez
Summary: This study investigated the impact of SARS-CoV-2 vaccination on seroprevalence in a cohort of healthcare workers at an ophthalmic medical center. The results showed that almost all healthcare workers were seropositive for SARS-CoV-2 S1/S2 proteins due to the national vaccination program. Interestingly, a significant percentage of participants also had antibodies against the N protein, indicating previous COVID-19 infection. The neutralizing antibody levels were also found to be high.
OPHTHALMIC EPIDEMIOLOGY
(2023)
Article
Cell Biology
Gibran Alejandro Estua-Acosta, Beatriz Buentello-Volante, Fatima Sofia Magana-Guerrero, Jose Eduardo-Aguayo Flores, Oscar Vivanco-Rojas, Ilse Castro-Salas, Karla Zarco-Avila, Mariana A. Garcia-Mejia, Yonathan Garfias
Summary: This research describes the impact of prostaglandin E-2 (PGE(2)) secreted by human amniotic membrane mesenchymal stem cells (hAM-MSCs) on neutrophil extracellular trap (NET) release and identifies the role of its receptors (EP2/EP4) in PAD-4 and NF kappa B activity in neutrophils.
Article
Cardiac & Cardiovascular Systems
Hsin- Teng, Hsiang-Yao Chen, Chuan-Tsai Tsai, Wei-Chieh Huang, Ying-Ying Chen, Chien-Hung Hsueh, William K. K. Hau, Tse-Min Lu
Summary: This study demonstrated that low serum 1,5-AG levels were associated with an increased risk of CAC as assessed by OCT, especially in diabetic patients. Low serum 1,5-AG levels may predict future major adverse cardiovascular events in diabetic patients undergoing OCT-guided PCI.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Endocrinology & Metabolism
Zheng-Wei Chen, Chien-Ting Pan, Che-Wei Liao, Cheng-Hsuan Tsai, Yi-Yao Chang, Chin-Chen Chang, Bo-Ching Lee, Yu-Wei Chiu, Wei-Chieh Huang, Shuo-Meng Wang, Ching-Chu Lu, Jeff S. Chueh, Vin-Cent Wu, Chi-Sheng Hung, Yen-Hung Lin
Summary: This study compared the reversal of arterial stiffness in surgically and medically treated PA patients and identified predictors of effective medical treatment. The findings showed that adrenalectomy and medically treated PA patients with unsuppressed plasma renin activity (PRA) had an improvement in arterial stiffness.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Neurosciences
Artur Cideciyan, Samuel G. Jacobson, Alexander Sumaroka, Malgorzata Swider, Arun K. Krishnan, Rebecca Sheplock, Alexandra V. Garafalo, Karina E. Guziewicz, Gustavo D. Aguirre, William A. Beltran, Yoshitsugu Matsui, Mineo Kondo, Elise Heon
Summary: The only approved retinal gene therapy is for biallelic RPE65 mutations which cause a recessive retinopathy with a primary molecular defect located at the retinal pigment epithelium (RPE). For a distinct recessive RPE disease caused by biallelic BEST1 mutations, a pre-clinical proof-of-concept for gene therapy has been demonstrated in canine eyes. The current study was undertaken to consider potential outcome measures for a BEST1 clinical trial in patients demonstrating a classic autosomal recessive bestrophinopathy (ARB) phenotype.
Article
Peripheral Vascular Disease
Wei-Chieh Huang, Ying-Ying Chen, Shao-Yu Yang, Chun-Fu Lai, Tai-Shuan Lai, Hsiang-Yao Chen, LiWei Chen, Yi-Jen Wang, Yu-Lun Cheng, Cheng-Lin Lang, Chih-Fan Chen, Hui-Fang Chang, Jen-Kuei Peng, Liang-Yu Lin, Hao-Min Cheng, Chii-Min Hwu, Tse-Min Lu, Jeff S. S. Chueh, Yen-Hung Lin, Vin-Cent Wu
Summary: Aldosterone excess is associated with obesity, and this study evaluated the impact of obesity on clinical outcomes in patients with uPA after adrenalectomy. Using BCM, body composition was assessed before and after the surgery. Obesity was classified into three groups based on FM and BMI. The results showed that overweight and NWO patients had a higher risk of persistent hypertension after adrenalectomy. It is important to assess pre-obesity and overweight in uPA patients, especially those with a normal BMI.
HYPERTENSION RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Fatima Sofia Magana-Guerrero, Jose Eduardo Aguayo-Flores, Beatriz Buentello-Volante, Karla Zarco-Avila, Paola Sanchez-Cisneros, Ilse Castro-Salas, Enya De la Torre-Galvan, Jose Luis Rodriguez-Loaiza, Aida Jimenez-Corona, Yonathan Garfias
Summary: Diabetic retinopathy (DR) is a complication of diabetes that can lead to vision loss. This study investigated the role of neutrophil traps (NETs) in the progression of DR in patients with type 2 diabetes (T2DM). The results showed correlations between NETs and clinical indicators such as fasting glucose, glycated hemoglobin (HbA1c), and estimated glomerular filtration rate (eGFR). These findings suggest that inflammation mediated by NETs may contribute to the development of DR in T2DM patients.
Proceedings Paper
Computer Science, Information Systems
Chiu-Han Hsiao, Tsung-Yu Peng, Wei-Chieh Huang, Hsin- Teng, Tse-Min Lu, Frank Yeong-Sung Lin, Yennun Huang
Summary: A federated learning-based deep learning model is proposed for distributed IVUS image segmentation. The results indicate that the lightweight model performs almost as well as deeper models but with significantly less time consumption.
ADVANCED INFORMATION NETWORKING AND APPLICATIONS, AINA-2022, VOL 1
(2022)
Meeting Abstract
Ophthalmology
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Michael Schwartz, Aniz Girach
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Meeting Abstract
Ophthalmology
Wei Chieh Huang, Christina Ohnsman, Yevgeniya Atiskova, Simon Dulz
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Meeting Abstract
Ophthalmology
William A. Beltran, Artur V. Cideciyan, Ana Ripolles-Garcia, Valerie L. Dufour, Yu Sato, Alexa Gray, Malgorzata Swider, Sanford L. Boye, William W. Hauswirth, Samuel G. Jacobson, Gustavo D. Aguirre
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)