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
Nutrition & Dietetics
Lorena Olivares-Gonzalez, David Salom, Emilio Gonzalez-Garcia, David Hervas, Natalia Mejia-Chiqui, Mar Melero, Sheyla Velasco, Bianca Tabita Muresan, Isabel Campillo, Nieves Vila-Clerigues, Eduardo Lopez-Briz, Juan Francisco Merino-Torres, Jose Maria Millan, Jose Miguel Soriano Del Castillo, Regina Rodrigo
Summary: This study evaluated the effect of a 2-year nutritional intervention with antioxidant nutraceuticals on retinitis pigmentosa (RP) patients. The findings showed that the intervention improved retinal responses and reduced ocular oxidative damage, suggesting that long-term nutraceutical supplementation can slow down visual impairment and ameliorate ocular oxidative stress in RP.
FRONTIERS IN NUTRITION
(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
Winston Lee, Jana Zernant, Takayuki Nagasaki, Laurie L. Molday, Pei-Yin Su, Gerald A. Fishman, Stephen H. Tsang, Robert S. Molday, Rando Allikmets
Summary: Variants in the ABCA4 gene can cause a range of retinal diseases, with Stargardt disease being the most well-known. The p.(Gly1961Glu) variant is common but its pathogenicity is debated. The c.769-784C>T variant is found to be a major modifier of the p.(Gly1961Glu) allele, contributing to the rarity of affected homozygotes in the population.
HUMAN MOLECULAR GENETICS
(2021)
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
Multidisciplinary Sciences
Xiaohong Chen, Yanjian Chen, Xingchui Lin, Qian Ye, Sheng Zhang, Yunpeng Wang, Meizhu Chen, Weiming Yan
Summary: This study investigated the feasibility and effectiveness of drinking hydrogen-rich water (HRW) in the treatment of retinitis pigmentosa (RP) patients. The results showed that short-term consumption of HRW slightly improved visual function in RP patients, but did not significantly improve the thickness of the retina and choroid.
Article
Biochemistry & Molecular Biology
Ivona Bucan, Mirjana Bjelos, Irena Markovic, Diana Bucan
Summary: This article presents a rare case of a proven mutation in the RP1 gene in a kidney transplant patient. The patient showed signs of retinitis pigmentosa during an eye examination, and genetic testing confirmed a mutation in the RP1 gene. It is unclear why this gene mutation is specifically associated with retinal function and not with hypertension and renal disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Xiaoqiang Xiao, Fangyi Ling, Chong-Bo Chen, Jiajian Liang, Yingjie Cao, Yanxuan Xu, Haoyu Chen
Summary: This study aims to investigate the co-expression and interaction of PRPF31 and PRPH2. Through transfection and immunological experiments, it was found that they co-localize and interact in cells and mouse retina.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Ophthalmology
Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Summary: The study aimed to describe the molecular epidemiology of nonsyndromic retinitis pigmentosa and Usher syndrome in Italian patients. Through genetic analysis, potentially pathogenic variants were identified which have significant implications for disease diagnosis and inheritance mechanisms.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Ophthalmology
Evgenia Anikina, Michalis Georgiou, James Tee, Andrew R. Webster, Richard G. Weleber, Michel Michaelides
Summary: The study on microperimetry testing of RPGR-associated retinopathy found high reproducibility and strong interocular correlation, indicating its utility in accurately monitoring disease progression and assessing gene therapy clinical trial outcomes.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar
Summary: This study aimed to identify the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. Whole exome sequencing was performed on 12 affected families, and 9 pathogenic variants in six genes associated with BBS were identified. The most common causative gene was BBS6/MKS, and the clinical differences among patients carrying the same pathogenic variant may be due to other modifier genes.
Article
Ophthalmology
Hyun Woo Lee, Eun Kyoung Lee
Summary: This study describes a case of X-linked retinitis pigmentosa (XLRP) with marked asymmetry and a novel RP2 gene mutation. The patient exhibited bone spicule pigmentation and tessellated changes in the fundus, as well as generalized disruption of foveal microstructures on optical coherence tomography (OCT). Genetic testing revealed a heterozygous frameshift mutation in RP2, resulting in premature termination of the protein.
Article
Cell Biology
Bi Ning Zhang, Xiaoming Wu, Yunhai Dai, Benxiang Qi, Caixia Fan, Yusen Huang
Summary: Proteomic analysis of aqueous humor samples identified potential proteins contributing to lens capsular contraction in patients with RP after cataract surgery, shedding light on the pathogenesis of this complication. The upregulated proteins in the RP group were enriched in wound response, while downregulated proteins were enriched in cell adhesion and lens crystallins, indicating a potential target for further research.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Mirjana Bjelos, Mladen Busic, Ana Curic, Borna Saric, Damir Bosnar, Leon Markovic, Biljana Kuzmanovic Elabjer, Benedict Rak
Summary: This case report presents a novel point mutation RPE65 c.353G>A, p.(Arg118Lys) associated with severe clinical presentation and complete macular atrophy in retinitis pigmentosa. The study suggests that this mutation should be reclassified as likely pathogenic due to its contribution to the pathological phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Yuqin Liang, Feng Tan, Xihao Sun, Zekai Cui, Jianing Gu, Shengru Mao, Hon Fai Chan, Shibo Tang, Jiansu Chen
Summary: This study established an iPSCs model of a PRPF6-related adRP patient and generated a disease model of RPE cells, revealing the effects of PRPF6 mutation on the morphology, gene expression, and function of RPE cells. This research is of great significance for understanding PRPF6-related RPE cells and future cell therapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Ygal Rotenstreich, Adi Tzameret, Sapir E. Kalish, Ettel Bubis, Michael Belkin, Iris Moroz, Mordechai Rosner, Itay Levy, Shlomo Margel, Ifat Sher
ACTA OPHTHALMOLOGICA
(2017)
Article
Cell & Tissue Engineering
Adi Tzameret, Sapir E. Kalish, Ifat Sher, Lea Twito, Amilia Meir, Itay Levy, Shlomo Margel, Iris Moroz, Mordechai Rosner, Avraham J. Treves, Arnon Nagler, Michael Belkin, Ygal Rotenstreich
STEM CELLS INTERNATIONAL
(2017)
Article
Multidisciplinary Sciences
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
SCIENTIFIC REPORTS
(2018)
Article
Ophthalmology
Ettel Bubis, Ifat Sher, Alon Skaat, Inbal Sharvit-Ginon, Alicja M. Szalapak, Iris Moroz, Ofra Kalter-Leibovici, Ygal Rotenstreich
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2019)
Article
Ophthalmology
Ifat Sher, Adi Tzameret, Alicja M. Szalapak, Tomer Carmeli, Estela Derazne, Noa Avni-Zauberman, Arie L. Marcovich, Guy Ben Simon, Ygal Rotenstreich
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2019)
Article
Ophthalmology
Yair Rubinstein, Miri Fogel-Levin, Reut Singer, Hani Levkovitch-Verbin, Iris Moros, Ifat Sher, Ygal Rotenstreich, Alon Skaat
JOURNAL OF GLAUCOMA
(2019)
Article
Genetics & Heredity
Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Coheri, Eran Pras, Libe Gradstein, Shiri Soudry, Eedy Mezer, Dinah Zur, Anan H. Abbasi, Christina Zeitz, Frans P. M. Cremers, Muhammad Khan, Jaime Levy, Ygal Rotenstreich, Ohad S. Birk, Miriam Ehrenberg, Rina Leibu, Hadas Newman, Noam Shomron, Eyal Baniri, Ido Periman
Article
Ophthalmology
Ifat Sher, Adi Tzameret, Zehavit Goldberg, Ettel Bubis, Noa Avni-Zauberman, Ofra Kalter-Leibovici, Arie L. Marcovich, Guy Ben Simon, Ygal Rotenstreich
Article
Biotechnology & Applied Microbiology
Victoria Edelshtain, Alon Peled, Adi Tzameret, Sarah Pri Chen, Hana Ziv, Estela Derazne, Dror Harats, Rachel Greenberg, Ayelet Harari, Aviv Shaish, Ifat Sher, Ygal Rotenstreich
ALGAL RESEARCH-BIOMASS BIOFUELS AND BIOPRODUCTS
(2019)
Article
Medicine, General & Internal
Shai Cohen, Yisroel Tucker, Sharon Guttman, Ettel Bubis, Yair Rubinstein, Alon Skaat, Ifat Sher, Ygal Rotenstreich
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL
(2019)
Article
Ophthalmology
Daniel Ben Ner, Ifat Sher, Amit Hamburg, Mohamad O. Mhajna, Ron Chibel, Estela Derazne, Inbal Sharvit-Ginon, Eran Pras, Hadas Newman, Jaime Levy, Samer Khateb, Dror Sharon, Ygal Rotenstreich
CLINICAL OPHTHALMOLOGY
(2019)
Article
Neurosciences
Adi Tzameret, Ifat Sher, Victoria Edelstain, Michael Belkin, Ofra Kalter-Leibovici, Arieh S. Solomon, Ygal Rotenstreich
VISUAL NEUROSCIENCE
(2019)
Article
Ophthalmology
Soad Haj Yahia, Amit Hamburg, Ifat Sher, Daniel Ben Ner, Saeed Yassin, Ron Chibel, Michael Mimouni, Estela Derazne, Michael Belkin, Ygal Rotenstreich
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2018)
Proceedings Paper
Ophthalmology
Ygal Rotenstreich, Daniel Ben-Ner, Inbal Sharvit-Ginon, Ramit Ravona-Springer, Michal Beeri, Ifat Sher
OPTHALMIC TECHNOLOGIES XXVII
(2017)
Proceedings Paper
Ophthalmology
Noam Sapiens, Bat-Chen Cohen, Ygal Rotenstreich
OPTHALMIC TECHNOLOGIES XXVII
(2017)