Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant by Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Paola Carrera, Ivana Spiga, Maria Grazia Patricelli, Francesco Bandello, Maurizio Battaglia Parodi

“…Purpose: Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 (RP1L1) gene. The present study describes a novel RP1L1 variant, identified for the first time in two Italian sisters diagnosed with OMD, along with multimodal imaging features, including Optical Coherence Tomography (OCT) Angiography. …”
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Properties of a Single Amino Acid Residue in the Third Transmembrane Domain Determine the Kinetics of Ambient Light-Sensitive Channelrhodopsin by Akito Hatakeyama, Eriko Sugano, Tatsuki Sayama, Yoshito Watanabe, Tomoya Suzuki, Kitako Tabata, Yuka Endo, Tetsuya Sakajiri, Tomokazu Fukuda, Taku Ozaki, Hiroshi Tomita

“…Channelrhodopsins have been utilized in gene therapy to restore vision in patients with retinitis pigmentosa and their channel kinetics are an important factor to consider in such applications. …”
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Deep Learning for the Detection of Multiple Fundus Diseases Using Ultra-widefield Images by Gongpeng Sun, Xiaoling Wang, Lizhang Xu, Chang Li, Wenyu Wang, Zuohuizi Yi, Huijuan Luo, Yu Su, Jian Zheng, Zhiqing Li, Zhen Chen, Hongmei Zheng, Changzheng Chen

“…Methods Based on 4574 UWFIs, a deep learning model was trained and validated that can identify normal fundus and eight common fundus diseases, namely referable diabetic retinopathy, retinal vein occlusion, pathologic myopia, retinal detachment, retinitis pigmentosa, age-related macular degeneration, vitreous opacity, and optic neuropathy. …”
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Hydrogen peroxide-induced oxidative damage and protective role of peroxiredoxin 6 protein via EGFR/ERK signaling pathway in RPE cells by Xiaodong Chen, Xiaodong Chen, Radouil Tzekov, Mingyang Su, Yusheng Zhu, Aidong Han, Wensheng Li, Wensheng Li, Wensheng Li

“…IntroductionDamage to retinal pigment epithelium (RPE) cells caused by oxidative stress is closely related to the pathogenesis of several blinding retinal diseases, such as age-related macular degeneration (AMD), retinitis pigmentosa, and other inherited retinal degenerative conditions. …”
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Causes and characteristics of low vision patients in Turkey by Sezen Akkaya, Yelda Buyru Özkurt, Sibel Aksoy, Aysu Arsan

“…Parental consanquinity was significantly higher in macular dystrophy and retinitis pigmentosa groups. Of genetics in the etiology of these diseases are known to be effective. …”
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Atypical chorioretinal lesions in Siberian Husky dogs with primary angle-closure glaucoma: a case series by Shin Ae Park, Dodd Sledge, Colleen F. Monahan, Leandro Teixeira, Ryan Boyd, Katie Freeman, Kristin Koehl, Christine Harman, Kirk Munoz, Laurence M. Occelli, Chris G. Pirie, Harriet Davidson, Simon Petersen-Jones, András M. Komáromy

“…Genetic testing for mutations within the retinitis pigmentosa GTPase regulator gene causing X-linked progressive retinal atrophy in Siberian Huskies was negative. …”
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Retrospective Natural History Study of <i>RPGR</i>-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease by Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo

“…Variants in the X-linked retinitis pigmentosa GTPase regulator gene (<i>RPGR)</i> and, specifically, in its retinal opening reading frame-15 isoform (<i>RPGR^ORF15</i>) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). …”
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Identification of a novel ferroptosis-related gene signature associated with retinal degeneration induced by light damage in mice by Xin-Lan Lei, Qiao-Li Yang, Yong-Zhao Wei, Xu Qiu, Hui-Yi Zeng, Ai-Min Yan, Kai Peng, Ying-Lin Li, Feng-Qin Rao, Feng-Hua Chen, Lue Xiang, Kun-Chao Wu

“…Background: Neurodegenerative retinal diseases such as retinitis pigmentosa are serious disorders that may cause irreversible visual impairment. …”
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A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission by Mai N. Nguyen, Dibyendu Chakraborty, Sriganesh Ramachandra Rao, Agnieszka Onysk, Mariusz Radkiewicz, Liliana Surmacz, Ewa Swiezewska, Eric Soubeyrand, Tariq A. Akhtar, Timothy W. Kraft, David M. Sherry, Steven J. Fliesler, Steven J. Pittler

“…Abstract Retinitis pigmentosa (RP) defines a group of hereditary progressive rod-cone degenerations that exhibit a common phenotype caused by variants in over 70 genes. …”
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Single-cell transcriptome reveals diversity of Müller cells with different metabolic-mitochondrial signatures in normal and degenerated macula by Bei Liu, Bei Liu, Jiali He, Ling Zhong, Ling Zhong, Lulin Huang, Lulin Huang, Bo Gong, Bo Gong, Jing Hu, Jing Hu, Hao Qian, Hao Qian, Zhenglin Yang, Zhenglin Yang, Zhenglin Yang

“…In response to injury and/or neuronal degeneration, Müller cells undergo morphological and functional alternations, known as reactive gliosis documented in multiple retinal diseases, including age-related macular degeneration (AMD), retinitis pigmentosa, diabetic retinopathy, and traumatic retinal detachment. …”
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Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration by Tal Brandwine, Reut Ifrah, Tzofia Bialistoky, Rachel Zaguri, Elisheva Rhodes-Mordov, Liliana Mizrahi-Meissonnier, Dror Sharon, Vladimir L. Katanaev, Vladimir L. Katanaev, Offer Gerlitz, Baruch Minke

“…Individuals who have biallelic missense mutations in the DHDDS gene are presented with non-syndromic retinitis pigmentosa with unknown underlying mechanism. We have used the Drosophila model to compromise DHDDS ortholog gene (CG10778) in order to look for cellular and molecular mechanisms that, when defective, might be responsible for this retinal disease. …”
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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement by Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group

“…This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. …”
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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant by 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 Guimarães 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

“…(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homozygous for this variant. …”
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Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, R. A. Zinchenko

“…One patient with homozygous mutation p.R653C autosomal recessive ABCA4-associated retinitis pigmentosa (RP19) was diagnosed. Clinical picture and autofluorescence were polymorphic in all patients.Conclusions. …”
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Analysis of the Status and Tendency of R&D Input in the Field of Rare Diseases Funded by the National Natural Science Foundation of China by Hanyu Chang, Hanyu Chang, Wei Chu, Xiaodan Li, Jing Ma, Dingguo Li, Ni Yuan

“…Among the categories of projects, the most-funded projects were general (¥ 150,145,000, 59.22%), followed by Youth Foundation projects (¥ 53,719,000, 21.19%) and key projects (¥ 15,870,000, 6.26%); among the categories of disease systems, the most funded disease system was the nervous system (¥ 93,186,000, 37.76%), followed by the respiratory system (¥ 35,444,000, 13.98%); the most funded diseases were multiple sclerosis (¥ 34,870,000, 13.75%), idiopathic pulmonary fibrosis (¥ 29,854,000, 11.78%), and retinitis pigmentosa (¥ 27,005,000, 10.65%); the most funded regions were East China (¥ 106,987,000, 42.20%) and North China (¥ 71,844,000, 28.34%), while the least funded region was Northwest China (¥ 7,295,000, 2.88%); among the supporting institutions, the most funded institutions were Peking University (¥ 24,720,000, 9.75%), and Sun Yat-sen University (¥ 14,505,000, 5.72%).Conclusion: With the promulgation of more policies on encouragement of innovation and accelerated approval procedures, etc., the National Natural Science Foundation of China has been increasing its funding to rare diseases, covering increasingly more categories of funded projects, more types of diseases, and wider regions. …”
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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina by Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela

“…The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. …”
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Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families by Feiyin Zi, Zhen Li, Wanyu Cheng, Xiaoyu Huang, Xunlun Sheng, Weining Rong

“…Further clinical examination showed that pedigrees 1, 2, 3, and 4 were diagnosed as X-linked recessive hereditary eye disease with early-onset high myopia, including quiescent cone dysfunction, retinitis pigmentosa, ocular albinism, and idiopathic congenital nystagmus respectively. …”
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Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant by Chen Matsevich, MSc, Prakadeeswari Gopalakrishnan, PhD, Alexey Obolensky, MD, PhD, Eyal Banin, MD, PhD, Dror Sharon, PhD, Avigail Beryozkin, PhD

“…Purpose: Pathogenic variants in FAM161A are the most common cause of retinitis pigmentosa in Israel. Two founder pathogenic variants explain the vast majority of cases of Jewish origin, 1 being a nonsense variant (p.Arg523∗). …”
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Impact of Retinal Degeneration on Response of ON and OFF Cone Bipolar Cells to Electrical Stimulation by Shayan Farzad, Pragya Kosta, Ege Iseri, Steven T. Walston, Jean-Marie C. Bouteiller, Rebecca L. Pfeiffer, Crystal L. Sigulinsky, Jia-Hui Yang, Jessica C. Garcia, James R. Anderson, Bryan W. Jones, Gianluca Lazzi

“…In retinal degenerative diseases, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD), the photoreceptors become stressed and start to degenerate in the early stages of the disease. …”
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Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation by Sang-Yeon Lee, Kwangsic Joo, Jayoung Oh, Jin Hee Han, Hye-Rim Park, Seungmin Lee, Doo-Yi Oh, Se Joon Woo, Byung Yoon Choi

“…Results We identified the following variants of USH2A from the two probands manifesting more than severe SNHL and retinitis pigmentosa (RP): compound heterozygosity for a nonsense (c.8176C>T: p.R2723X) and a missense variant (c.1823G>A: p.C608Y) in SB237, and compound heterozygosity for two frameshift variants (c.14835delT: p.S4945fs & c.13112_13115delAAAT: p.G4371fs) in SB354. …”
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