Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma by Joel T. Rämö, Bryan R. Gorman, Lu-Chen Weng, Sean J. Jurgens, Panisa Singhanetr, Marisa G. Tieger, Elon HC van Dijk, Christopher W. Halladay, Xin Wang, Blake M. Hauser, Soo Hyun Kim, Joost Brinks, Seung Hoan Choi, Yuyang Luo, FinnGen, VA Million Veteran Program, Saiju Pyarajan, Cari L. Nealon, Michael B. Gorin, Wen-Chih Wu, Scott A. Anthony, David P. Roncone, Lucia Sobrin, Kai Kaarniranta, Suzanne Yzer, Aarno Palotie, Neal S. Peachey, Joni A. Turunen, Camiel JF Boon, Patrick T. Ellinor, Sudha K. Iyengar, Mark J. Daly, Elizabeth J. Rossin

“…This was confirmed in a meta-analysis of 2,452 patients and 865,767 controls from 4 studies (odds ratio=3.06, P = 7.4 × 10-15). …”
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Biomarker combinations from different modalities predict early disability accumulation in multiple sclerosis by Vinzenz Fleischer, Tobias Brummer, Muthuraman Muthuraman, Muthuraman Muthuraman, Falk Steffen, Milena Heldt, Maria Protopapa, Muriel Schraad, Gabriel Gonzalez-Escamilla, Sergiu Groppa, Stefan Bittner, Frauke Zipp

“…Two key measures from each modality were determined and related to subsequent disability progression: lesion volume (LV), gray matter volume (GMV), retinal nerve fiber layer, ganglion cell-inner plexiform layer, serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein. …”
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Refractive status and ocular characteristics of preschool children with retinopathy of prematurity after different treatments by Wu-Yang Jiang, Man-Hong Li, Hao Wang, Dong Niu, Yu-Sheng Wang, Zi-Feng Zhang

“…AIM: To compare the changes in preschool refractive status, ocular biological parameters, and higher-order aberrations in children with retinopathy of prematurity (ROP) after retinal laser photocoagulation or anti-vascular endothelial growth factor (anti-VEGF) treatment and explore their underlying factors. …”
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Ozone exposure and increased risk of age-related macular degeneration: Evidence from nationwide cohort and toxicological studies by Guanran Zhang, Yanlin Qu, Xiaoling Wan, Xinyi Fang, Yidong Wu, Tong Li, Junran Sun, Xinxin Liu, Yanyi Xu, Huihuan Luo, Xia Meng, Weiting Hu, Renjie Chen, Zhenyu Wu, Huixun Jia, Xiaodong Sun

“…We conducted a nationwide cohort analysis of 27,923 participants in China, along with a random control animal toxicological study, to elucidate the temporal relationship between ozone exposure and AMD as well as the underlying biological explanation. …”
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Downregulation of MerTK in circulating T cells of patients with non-proliferative diabetic retinopathy by Shimiao Bu, Shimiao Bu, Jiang-Yue Ling, Jiang-Yue Ling, Xiaojun Wu, Xiaojun Wu, Liting Zhang, Liting Zhang, Xiangyu Shi, Lang Huang, Zheng Zhao, Ying Yang, Zongqin Xiang, Yong U. Liu, Yong U. Liu, Yufeng Liu, Yuehong Zhang, Yuehong Zhang

“…Western blot and flow cytometry were also employed to evaluate the protein expression of specific genes.ResultsIn patients with NPDR compared to those with DM alone, MerTK—a gene implicated in inherited retinal dystrophies due to its mutations—was notably downregulated in PBMCs. …”
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Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes by Sophia Grotz, Jessica Schäfer, Kirsten A Wunderlich, Zdenka Ellederova, Hannah Auch, Andrea Bähr, Petra Runa‐Vochozkova, Janet Fadl, Vanessa Arnold, Taras Ardan, Miroslav Veith, Gianluca Santamaria, Georg Dhom, Wolfgang Hitzl, Barbara Kessler, Christian Eckardt, Joshua Klein, Anna Brymova, Joshua Linnert, Mayuko Kurome, Valeri Zakharchenko, Andrea Fischer, Andreas Blutke, Anna Döring, Stepanka Suchankova, Jiri Popelar, Eduardo Rodríguez‐Bocanegra, Julia Dlugaiczyk, Hans Straka, Helen May‐Simera, Weiwei Wang, Karl‐Ludwig Laugwitz, Luk H Vandenberghe, Eckhard Wolf, Kerstin Nagel‐Wolfrum, Tobias Peters, Jan Motlik, M Dominik Fischer, Uwe Wolfrum, Nikolai Klymiuk

“…Changes in photoreceptor architecture, quantitative motion analysis, and electroretinography were characteristics of the reduced retinal virtue in USH1C pigs. …”
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Evaluating <i>TAB2, IKBKB,</i> and <i>IKBKG</i> Gene Polymorphisms and Serum Protein Levels and Their Association with Age-Related Macular Degeneration and Its Treatment Efficiency by Alvita Vilkeviciute, Enrika Pileckaite, Akvile Bruzaite, Dzastina Cebatoriene, Greta Gedvilaite-Vaicechauskiene, Loresa Kriauciuniene, Dalia Zaliuniene, Rasa Liutkeviciene

“…Its pathogenesis involves the death of the retinal pigment epithelium (RPE), followed by photoreceptor degeneration. …”
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Long-Shaft Vitrectomy Probe for Vitreoretinal Diseases in Highly Myopic Eyes: A Randomized Controlled Trial by Yun Hsia, MD, MS, Cheng-Yung Lee, MD, Mei-Chi Tsui, MD, Shih-Wen Wang, MD, Chien-Jung Huang, MD, I-Hsin Ma, MD, MS, Kuo-Chi Hung, MD, Muh-Shy Chen, MD, PhD, Zih-Wei Yang, MD, Bo-Da Huang, MD, Ting-Chieh Ko, MD, Tzyy-Chang Ho, MD

“…Anatomical and visual outcomes and complications were documented for 6 months. Subgroup analysis was performed to compare the eyes with AL >28 mm to those without. …”
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Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind c... by Una Martin, Timothy Barrett, Susan Mollan, Karen E Morrison, Ruth Evans, Isabelle Meunier, Rajat Gupta, Andrew Peet, Martin Wilson, Sulev Koks, Wojciech Młynarski, Patrick Yu-Wai-Man, Agathe Roubertie, Darren Barton, Dewi Astuti, Renuka P Dias, Lucinda Billingham, Kun Hu, Malgorzata Zatyka, Archana Kulkarni, Benjamin Wright, Kristian Brock, Victoria Homer, Rebecca Malpass, Heather Rose, Christophe Orssaud, Zsuzsanna Nagy, Tracy Lynch, Sabrina Cronier, Amandip Malhi, Pooja Takhar, Amy Lamb, Gema Esteban-Bueno

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Vision Restoration through transorbital electrical stimulation in Optic Neuropathy in patients with significant optic atrophy due to primary open-angle glaucoma—a randomised, contr... by Katrin Lorenz, Alexander Radbruch, Hans Hoerauf, Philip Enders, Karl Mercieca, Christian van Oterendorp, Marc Brockmann, Anna Beck, Thomas Asendorf, Bettina Wabbels, Michael Schittkowski, Verena Prokosch, Johanna Pohlner, Carsten Grohmann, Lena Kröger, Jens Haueisen, Alexander Hunold, Maria Bernhard, Peter Dechent, Mathias Bähr, Andrea Antal

“…The disease is characterised by the loss of retinal ganglion cells associated with a progressive optic neuropathy, resulting in an impairment of visual functions, for example, visual field loss. …”
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Identifying Therapeutic Targets and Potential Drugs for Diabetic Retinopathy: Focus on Oxidative Stress and Immune Infiltration by Peng H, Hu Q, Zhang X, Huang J, Luo S, Zhang Y, Jiang B, Sun D

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Kearns-Sayre syndrome "plus": classical clinical findings and dystonia by MARIE SUELY K.NAGAHASHI, CARVALHO ALZIRA A.S., FONSECA LUIZ FERNANDO, CARVALHO MARY S., REED UMBERTINA C., SCAFF MILBERTO

“…The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. …”
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Pramipexole in addition to mood stabilisers for treatment-resistant bipolar depression: the PAX-BD randomised double-blind placebo-controlled trial by Hamish McAllister-Williams, Nicola Goudie, Lumbini Azim, Victoria Bartle, Michael Berger, Chrissie Butcher, Thomas Chadwick, Emily Clare, Paul Courtney, Lyndsey Dixon, Nichola Duffelen, Tony Fouweather, William Gann, John Geddes, Sumeet Gupta, Beth Hall, Timea Helter, Paul Hindmarch, Eva-Maria Holstein, Ward Lawrence, Phil Mawson, Iain McKinnon, Adam Milne, Aisling Molloy, Abigail Moore, Richard Morriss, Anisha Nakulan, Judit Simon, Daniel Smith, Bryony Stokes-Crossley, Paul Stokes, Andrew Swain, Zoë Walmsley, Christopher Weetman, Allan H Young, Stuart Watson

“…Current psychotic symptoms. History of retinal disease. Current symptoms or significant concerns around cardiovascular disease. …”
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Home Intravenous Self-Injection of Antibiotic Therapy by Alain Y Martel

“…The economical analysis showed a potential reduction of cost varying between $941.00 and $3325.00 per treatment. …”
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Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation by Zelal Ekinci, Levent Karabaş, Martin Konrad

“…On physical examination, bilateral horizontal nystagmus, retinitis pigmentosa and severe myopia were detected. …”
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Clinicodemographic Profile of Visual Disability Among Applicants for Disability Certification in South India by Venkataraghavan N, Nayak RR, Mendonca TM, Kiran A, Padenkilmar Devendra S, Kamath AR, Kamath G, Rodrigues G

“…When the specific diagnostic causes of visual impairment and blindness were analyzed, the leading cause was retinitis pigmentosa (18.5%), followed by optic atrophy (11.8%), corneal opacities (9.79%), and pathological myopia (6.7%). …”
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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. by Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

“…<h4>Introduction</h4>Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). …”
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Ocular and Neuro-ophthalmic Conditions Causing Visual Impairment in Human Immunodeficiency Virus: A Case Series by Sumit Arora, Sharmila Dudani, Charu Mohan, Mamadur MR Shankar, Piyush Chaturvedi, Athul Hema Kumar

“…Conclusion: Cytomegalovirus (CMV) retinitis remains the commonest cause of visual loss in PLHA in the combination antiretroviral therapy (cART) era. …”
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Rutin-Activated Nuclear Factor Erythroid 2-Related Factor 2 (Nrf2) Attenuates Corneal and Heart Damage in Mice by Promise M. Emeka, Lorina I. Badger-Emeka, Krishnaraj Thirugnanasambantham, Abdulaziz S. Alatawi

“…<b>Methods:</b> These investigations involved a cytotoxicity test, biochemical analysis, qRT-PCR, Western blotting, and mouse cardiac histopathology. …”
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Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report by Adithya Andanappa, Sai Santhosha Mrudula Alla, Aparna Malireddi, Prajwal Udedh, Hanisha Reddy Kukunoor, Deekshitha Alla, Uday Kumar Repalle, Bhanu Prasad Kosuru, Soujanya Tirupati, Ruth Getaneh Bayeh

“…The patient has been entirely blind since the age of 9 years, with confirmed retinitis pigmentosa. The other complaints were progressive weight gain and cognitive impairment. …”
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