Review
Biochemistry & Molecular Biology
Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon
Summary: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by the degeneration of rod and cone photoreceptors, leading to gradual loss of visual function. Although untreatable for most patients currently, genetic therapies offer new hope for the treatment of inherited retinal dystrophies. It is essential to continue supporting RP patients and utilize all available options for managing their condition. This review aims to familiarize readers with clinical management options currently available for RP patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Ana Artero-Castro, Kathleen Long, Andrew Bassett, Almudena Avila-Fernandez, Marta Corton, Antonio Vidal-Puig, Pavla Jendelova, Francisco Javier Rodriguez-Jimenez, Eleonora Clemente, Carmen Ayuso, Slaven Erceg
Summary: Hereditary retinal dystrophies are a significant cause of blindness due to lack of effective treatments. Patient-derived human-induced pluripotent stem cells can potentially provide autologous cells for therapy, but the presence of gene mutations remains a challenge.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell & Tissue Engineering
Eric D. Jong, Sabiha Hacibekiroglu, Lily Guo, Evan Sawula, Biao Li, Chengjin Li, Margaret T. Ho, Molly S. Shoichet, Valerie A. Wallace, Andras Nagy
Summary: A combined cell and gene therapy was developed for the treatment of retinitis pigmentosa (RP). Human embryonic stem cells (hESCs) were genetically engineered to differentiate into retinal pigment epithelium (hRPE) cells, which were used to protect and preserve photoreceptor cells in mouse models. This study reveals the potential of this therapy for RP treatment and the possibility of using hRPE cells for long-term delivery of therapeutic biologics.
STEM CELL RESEARCH & THERAPY
(2023)
Review
Neurosciences
Fangyuan Zhen, Tongdan Zou, Ting Wang, Yongwei Zhou, Shuqian Dong, Houbin Zhang
Summary: Rhodopsin is a light-sensitive receptor that initiates the phototransduction cascade. Mutations in the rhodopsin-encoding gene are the leading cause of retinitis pigmentosa. The high allelic heterogeneity suggests complex pathogenic mechanisms related to protein misfolding and dysfunction.
FRONTIERS IN NEUROSCIENCE
(2023)
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
Medicine, General & Internal
Lourdes Valdes-Sanchez, Sara Borrego-Gonzalez, Adoracion Montero-Sanchez, Simone Massalini, Berta de la Cerda, Aranzazu Diaz-Cuenca, Francisco J. Diaz-Corrales
Summary: The study shows that amino-functionalized mesoporous silica-based nanoparticles (N-MSiNPs) can safely and effectively deliver therapeutic transgenes to retinal cells, offering a potential alternative to viral vectors.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Cell Biology
Sedighe Hosseini Shabanan, Homa Seyedmirzaei, Alona Barnea, Sara Hanaei, Nima Rezaei
Summary: This review article mainly discusses the advances in application of stem cell and progenitor transplantation for retinitis pigmentosa, as well as provides a brief description of two approaches for treatment of early-stage RP.
CELL AND TISSUE RESEARCH
(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
Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon Woo
Summary: This study investigated the clinical features, natural course, and genetic characteristics of Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP). The study found that the generalized RP group had a higher rate of visual field impairment progression to late-stage RP compared to the sector RP group. Best-corrected visual acuity deterioration was observed only in the generalized RP group. The study also identified several RHO gene mutations, including some that presented with both generalized and sector RP phenotypes.
FRONTIERS IN GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Wanqin Liu, Shanshan Liu, Ping Li, Kai Yao
Summary: This article provides an overview of the latest research on the pathogenesis, diagnosis, and treatment of retinitis pigmentosa, focusing on the role of gene therapy, stem cell therapy, and optogenetics in personalized precision medicine.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Ophthalmology
Vahid Mansouri
Summary: This article reviews the genetic pathology of X-linked retinitis pigmentosa (XLRP) and discusses the preclinical aspects of XLRP gene therapy, animal models, associated assessments, and future challenges and directions.
OPHTHALMOLOGY AND THERAPY
(2023)
Review
Ophthalmology
Frederick R. Burgess, Hildegard Nikki Hall, Roly Megaw
Summary: Genetic eye diseases, a major cause of visual loss in children and adults, have seen significant progress in gene therapies. One therapy has already been licensed and many more are in clinical trials. However, there are still fundamental questions and challenges to overcome in the development of effective gene therapies for these diseases.
ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Bingyu Jin, Jing Li, Qiaodan Yang, Xinyu Tang, Chen Wang, Yue Zhao, Fang Zheng, Yuanzhen Zhang, Jianhong Ma, Ming Yan
Summary: The study aimed to identify causative variants in Chinese patients with suspected retinitis pigmentosa (RP) by conducting whole-exome sequencing (WES) and minigene assays. Out of the 75 enrolled patients, 33 were genetically solved, with 16 novel variants discovered. USH2A, CYP4V2, and RPGR were the most common causative genes. The findings not only revealed the genetic landscape of RP in China but also provided guidance for clinicians.
Article
Medicine, General & Internal
Shen Wu, Yingyan Mao, Qian Liu, Xuejing Yan, Jingxue Zhang, Ningli Wang
Summary: The study showed that Gas6 NPs are a promising method for sustained release of Gas6 protein, enhancing the therapeutic effects of gene therapy for MERTK-associated RP.
FRONTIERS IN MEDICINE
(2021)
Editorial Material
Ophthalmology
Mark W. Johnson, Abigail T. Fahim, Rajesh C. Rao
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2015)
Article
Ophthalmology
Abigail T. Fahim, Matthew P. Simunovic, Zaid Mammo, Danny Mitry, Kaivon Pakzad-Vaezi, Patrick Bradley, Omar A. Mahroo
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
(2016)
Article
Genetics & Heredity
Maria Fernanda Abalem, Cynthia X. Qian, Kari Branham, Dana Schlegel, Abigail T. Fahim, Naheed W. Khan, John R. Heckenlively, K. Thiran Jayasundera
OPHTHALMIC GENETICS
(2018)
Article
Ophthalmology
Abigail T. Fahim, Naheed W. Khan, Sarwar Zahid, Ira H. Schachar, Kari Branham, Susanne Kohl, Bernd Wissinger, Victor M. Elner, John R. Heckenlively, Thiran Jayasundera
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2013)
Article
Clinical Neurology
Maxwell S. Stem, Abigail Fahim, Jonathan D. Trobe, Hemant A. Parmar, Mohannad Ibrahim
JOURNAL OF NEURO-OPHTHALMOLOGY
(2014)
Article
Ophthalmology
Abigail T. Fahim, Naheed W. Khan, Mark W. Johnson
JAMA OPHTHALMOLOGY
(2014)
Article
Ophthalmology
Badr O. Alahmadi, Amro A. Omari, Maria Fernanda Abalem, Chris Andrews, Dana Schlegel, Kari H. Branham, Naheed W. Khan, Abigail Fahim, Thiran Jayasundera
Article
Ophthalmology
Abigail T. Fahim, Zaina Bouzia, Kari H. Branham, Neruban Kumaran, Mauricio E. Vargas, Kecia L. Feathers, N. Dayanthi Perera, Kelly Young, Naheed W. Khan, John R. Heckenlively, Andrew R. Webster, Mark E. Pennesi, Robin R. Ali, Debra A. Thompson, Michel Michaelides
BRITISH JOURNAL OF OPHTHALMOLOGY
(2019)
Article
Biotechnology & Applied Microbiology
Kecia L. Feathers, Lin Jia, Nirosha Dayanthi Perera, Adrienne Chen, Feriel K. Presswalla, Naheed W. Khan, Abigail T. Fahim, Alexander J. Smith, Robin R. Ali, Debra A. Thompson
HUMAN GENE THERAPY
(2019)
Article
Ophthalmology
Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison A. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, Jose-Alain Sahel, Katarina Stingl, Christina Y. Weng
Summary: A prospective observational study was conducted on 102 patients with USH2A-related retinal degeneration over a period of two years. It was found that quantitative measures of static perimetry significantly declined during this time. The greatest changes were observed in the full field and peripheral vision, while the central vision showed the least change.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Anne-Marie Hinds, Abigail Fahim, Anthony T. Moore, Sui Chien Wong, Michel Michaelides
BRITISH JOURNAL OF OPHTHALMOLOGY
(2018)
Article
Ophthalmology
Maria Fernanda Abalem, Benjamin Otte, Chris Andrews, Katherine A. Joltikov, Kari Branham, Abigail T. Fahim, Dana Schlegel, Cynthia X. Qian, John R. Heckenlively, Thiran Jayasundera
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2017)
Article
Ophthalmology
Abigail T. Fahim, Naser Ali, Taylor Blachley, Michel Michaelides
BRITISH JOURNAL OF OPHTHALMOLOGY
(2017)
Article
Medicine, Research & Experimental
Abigail T. Fahim, Stephen P. Daiger
RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY
(2016)