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)
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)
Article
Multidisciplinary Sciences
Dongju Won, Joo-Yeon Hwang, Yeeun Shim, Suk Ho Byeon, Junwon Lee, Christopher Seungkyu Lee, Min Kim, Hyun Taek Lim, Jong Rak Choi, Seung-Tae Lee, Jinu Han
Summary: MEIs are often missed due to exceeding read lengths of short-read sequencing technologies, but a grep search program was developed in this study to efficiently detect the RP1 Alu insertion. The Alu insertion in RP1 exon 4 was found to be a common founder mutation in Korean population.
SCIENTIFIC REPORTS
(2021)
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
Genetics & Heredity
Pankhuri Gupta, Kenji Nakamichi, Alyssa C. C. Bonnell, Ryan Yanagihara, Nick Radulovich, Fuki M. M. Hisama, Jennifer R. R. Chao, Debarshi Mustafi
Summary: Phasing genetic variants is crucial for identifying potential disease-causing variants. Reclassification of variants of uncertain significance (VUS) in autosomal recessive inherited retinal diseases (IRDs) can lead to a genetic diagnosis when combined with familial co-segregation analysis. This study reports four cases where a VUS was found to be trans to a known pathogenic variant through familial co-segregation, resulting in the reclassification of the VUS to likely pathogenic and a genetic diagnosis. Additionally, targeted long-read sequencing was utilized to infer variant phasing in a simplex patient without access to family members for co-segregation analysis. This emerging method provides a solution for cases where genetic testing of family members is unfeasible, allowing for a complete genetic diagnosis.
NPJ GENOMIC MEDICINE
(2023)
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)
Review
Medicine, General & Internal
Abinaya Thenappan, Arjun Nanda, Chang Sup Lee, Sun Young Lee
Summary: Timely recognition and differentiation of pseudo-RP cases is crucial due to the treatable nature of many such conditions. This review provides examples of pseudo-RP cases and an in-depth overview of RP masquerades, emphasizing the importance of accurate diagnoses for effective interventions. It also discusses the role of genetic testing in RP patients and highlights the necessity of a precise clinical assessment for diagnosis and management.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Daniel J. Jackson, Adam M. Dubis, Mariya Moosajee
Summary: This study reports the natural history of CNGB1-related RP and finds that it is a slowly progressive disease with patients maintaining visual acuity. Further research is needed to determine the clinical endpoints to be used in clinical trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Hong-Li Liu, Feng-Guan Gao, Dan-Dan Wang, Fang-Yuan Hu, Ping Xu, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu
Summary: This study investigates the clinical and genetic characteristics of the RPGR gene in a Chinese cohort, expanding the known mutational spectrum and providing a new reference for genetic diagnosis of RPGR variants.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Maria Kaukonen, Inka-Tuulevi Pettinen, Kaisa Wickstrom, Meharji Arumilli, Jonas Donner, Ida-Julia Juhola, Saila Holopainen, Joni A. Turunen, Masahito Yoshihara, Juha Kere, Hannes Lohi
Summary: Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs, such as Lapponian herders (LHs), are affected with similar illnesses like progressive retinal atrophy (PRA). A recent study identified a novel genetic variant in the IFT122 gene in affected LHs, suggesting a new genetic cause for retinal dystrophies in the breed. This finding provides a new spontaneous dog model to study the role of IFT122 in RP biology.
Article
Biochemistry & Molecular Biology
Enzo M. Vingolo, Lorenzo Casillo, Laura Contento, Francesca Toja, Antonio Florido
Summary: The study aimed to evaluate the relationship between circulating free radicals in blood and cystoid macular edema (CME) in Retinitis Pigmentosa (RP) patients. The results showed a significant increase in free oxygen radicals levels in RP patients with CME, suggesting that oxidative stress may accelerate cone cell damage.
Article
Genetics & Heredity
Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen K. Jolly, Robert E. MacLaren, Penny Clouston, Stephanie Halford, Susan M. Downes
Summary: This study aimed to compare the phenotype-genotype correlation between patients with Usher syndrome (USH) and those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. Results showed that both USH and NS-ARRP patients had an earlier onset of retinal disease. In addition, the severity of variants in Usher syndrome-related genes was associated with the presence of syndromic phenotype.
Article
Biology
Mei Nakahara, Akio Oishi, Manabu Miyata, Hanako Ohashi Ikeda, Tomoko Hasegawa, Shogo Numa, Yuki Otsuka, Maho Oishi, Fumihiko Matsuda, Akitaka Tsujikawa
Summary: Concentric retinitis pigmentosa is a rare form of RP with better visual function, preserved ellipsoid zones, and subnormal but recordable responses on electroretinogram. Genetic testing may reveal different causative genes in patients with this condition. Myotonic dystrophy-associated retinopathy is an important differential diagnosis to consider.
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
Lorena Olivares-Gonzalez, Sheyla Velasco, Isabel Campillo, David Salom, Emilio Gonzalez-Garcia, Jose Miguel Soriano del Castillo, Regina Rodrigo
Summary: In this study, the nutraceutical mixture with antioxidant properties (NUT) was found to delay retinal degeneration in rd10 mice, a model of RP. NUT treatment improved redox status, reduced inflammation, and preserved retinal functionality and morphology in early stages of RP. This formulation could potentially serve as a neuroprotective approach for patients with RP in the future.
Article
Ophthalmology
Atsunobu Takeda, Hisakata Yamada, Eiichi Hasegawa, Mitsuru Arima, Shoji Notomi, Sayaka Myojin, Takeru Yoshimura, Toshio Hisatomi, Hiroshi Enaida, Ryoji Yanai, Kazuhiro Kimura, Tatsuro Ishibashi, Koh-Hei Sonoda
JAPANESE JOURNAL OF OPHTHALMOLOGY
(2018)
Article
Ophthalmology
Yoshito Koyanagi, Shigeo Yoshida, Yoshiyuki Kobayashi, Yuki Kubo, Takahito Nakama, Keijiro Ishikawa, Shintaro Nakao, Toshio Hisatomi, Yasuhiro Ikeda, Yuji Oshima, Tatsuro Ishibashi, Koh-hei Sonoda
Article
Ophthalmology
Toshio Hisatomi, Takashi Tachibana, Shoji Notomi, Yoshito Koyanagi, Yusuke Murakami, Atsunobu Takeda, Yasuhiro Ikeda, Shigeo Yoshida, Hiroshi Enaida, Toshinori Murata, Taiji Sakamoto, Koh-Hei Sonoda, Tatsuro Ishibashi
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2018)
Article
Multidisciplinary Sciences
Kohta Fujiwara, Yasuhiro Ikeda, Yusuke Murakami, Takashi Tachibana, Jun Funatsu, Yoshito Koyanagi, Shunji Nakatake, Noriko Yoshida, Shintaro Nakao, Toshio Hisatomi, Shigeo Yoshida, Takeshi Yoshitomi, Tatsuro Ishibashi, Koh-Hei Sonoda
SCIENTIFIC REPORTS
(2018)
Article
Ophthalmology
Yoshihiro Kaizu, Shintaro Nakao, Haruka Sekiryu, Iori Wada, Muneo Yamaguchi, Toshio Hisatomi, Yasuhiro Ikeda, Junji Kishimoto, Koh-hei Sonoda
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2018)
Article
Ophthalmology
Shinichiro Ishikawa, Yukiyasu Yoshinaga, Daichi Kantake, Daisuke Nakamura, Noriko Yoshida, Toshio Hisatomi, Yasuhiro Ikeda, Tatsuro Ishibashi, Hiroshi Enaida
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2019)
Article
Ophthalmology
Yasuhiro Ikeda, Shunji Nakatake, Jun Funatsu, Kohta Fujiwara, Takashi Tachibana, Yusuke Murakami, Toshio Hisatomi, Shigeo Yoshida, Hiroshi Enaida, Tatsuro Ishibashi, Koh-Hei Sonoda
JAPANESE JOURNAL OF OPHTHALMOLOGY
(2019)
Article
Multidisciplinary Sciences
Shoji Notomi, Kenji Ishihara, Nikolaos E. Efstathiou, Jong-Jer Lee, Toshio Hisatomi, Takashi Tachibana, Eleni K. Konstantinou, Takashi Ueta, Yusuke Murakami, Daniel E. Maidana, Yasuhiro Ikeda, Shinji Kume, Hiroto Terasaki, Shozo Sonoda, Judith Blanz, Lucy Young, Taiji Sakamoto, Koh-Hei Sonoda, Paul Saftig, Tatsuro Ishibashi, Joan W. Miller, Guido Kroemer, Demetrios G. Vavvas
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Article
Multidisciplinary Sciences
Jun Funatsu, Yusuke Murakami, Shunji Nakatake, Masato Akiyama, Kohta Fujiwara, Shotaro Shimokawa, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Yukihide Momozawa, Koh-Hei Sonoda, Yasuhiro Ikeda
Article
Ophthalmology
Toshio Hisatomi, Hiroshi Enaida, Shigeo Yoshida, Akito Hirakata, Masahito Ohji, Kohji Nishida, Toshiaki Kubota, Nahoko Ogata, Takaaki Matsui, Kazuhiro Kimura, Koh-Hei Sonoda, Makiko Uchiyama, Junji Kishimoto, Koji Todaka, Yoichi Nakanishi, Tatsuro Ishibashi
JAPANESE JOURNAL OF OPHTHALMOLOGY
(2020)
Article
Ophthalmology
Yoshihiro Kaizu, Shintaro Nakao, Iori Wada, Mitsuru Arima, Muneo Yamaguchi, Keijiro Ishikawa, Masato Akiyama, Junji Kishimoto, Toshio Hisatomi, Koh-Hei Sonoda
OPHTHALMOLOGY RETINA
(2020)
Article
Ophthalmology
Masataka Ishizu, Yusuke Murakami, Kohta Fujiwara, Jun Funatsu, Shotaro Shimokawa, Shunji Nakatake, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Masato Akiyama, Yukihide Momozawa, Tatsuro Ishibashi, Koh-Hei Sonoda, Yasuhiro Ikeda
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2019)
Article
Ophthalmology
Yusuke Murakami, Jun Funatsu, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Yoshito Koyanagi, Toshio Hisatomi, Shigeo Yoshida, Shozo Sonoda, Taiji Sakamoto, Koh-Hei Sonoda, Yasuhiro Ikeda
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2018)
Article
Ophthalmology
Yusuke Murakami, Yasuhiro Ikeda, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Noriko Yoshida, Shoji Notomi, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh-Hei Sonoda
ACTA OPHTHALMOLOGICA
(2018)
Article
Ophthalmology
Yoshito Koyanagi, Yusuke Murakami, Jun Funatsu, Masato Akiyama, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Shintaro Nakao, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh-Hei Sonoda, Yasuhiro Ikeda
ACTA OPHTHALMOLOGICA
(2018)