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Orphanet Journal of Rare Diseases

Rare opthalmological diseases

  1. Content type: Review

    Behçet’s disease (BD) is a systemic vasculitis characterised by a relapsing remitting course, affecting multiple organ systems. In the eye, it is a cause of potentially blinding inflammation in the form of uve...

    Authors: Thomas W. McNally, Erika M. Damato, Philip I. Murray, Alastair K. Denniston and Robert J. Barry

    Citation: Orphanet Journal of Rare Diseases 2017 12:130

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  2. Content type: Research

    Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include rapidly progressive vision loss with abnormal electrophysiolo...

    Authors: Katherine Boudreault, Sally Justus, Jesse D. Sengillo, Kaspar Schuerch, Winston Lee, Thiago Cabral and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2017 12:129

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  3. Content type: Review

    Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare oculorenal inflammatory condition that was first described in 1975. In 2001 a major review identified 133 cases in the world literature and pr...

    Authors: Linda O. Okafor, Peter Hewins, Philip I. Murray and Alastair K. Denniston

    Citation: Orphanet Journal of Rare Diseases 2017 12:128

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  4. Content type: Research

    Patients with intermediate uveitis (IU) represent a heterogenous group characterized by a wide spectrum of etiologies and regional differences. Aim of the study was to analyze the characteristics of patients w...

    Authors: Thomas Ness, Daniel Boehringer and Sonja Heinzelmann

    Citation: Orphanet Journal of Rare Diseases 2017 12:81

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  5. Content type: Position statement

    Graves’ orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence o...

    Authors: P. Perros, L. Hegedüs, L. Bartalena, C. Marcocci, G. J. Kahaly, L. Baldeschi, M. Salvi, J. H. Lazarus, A. Eckstein, S. Pitz, K. Boboridis, P. Anagnostis, G. Ayvaz, A. Boschi, T. H. Brix, N. Currò…

    Citation: Orphanet Journal of Rare Diseases 2017 12:72

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  6. Content type: Research

    Although the majority of small in-frame insertions/deletions (indels) has no or little effect on protein function, a subset of these changes has been causally associated with genetic disorders. Notably, the mo...

    Authors: Panagiotis I. Sergouniotis, Stephanie J. Barton, Sarah Waller, Rahat Perveen, Jamie M. Ellingford, Christopher Campbell, Georgina Hall, Rachel L. Gillespie, Sanjeev S. Bhaskar, Simon C. Ramsden, Graeme C. Black and Simon C. Lovell

    Citation: Orphanet Journal of Rare Diseases 2016 11:125

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  7. Content type: Research

    Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described wi...

    Authors: Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis and Francesca Pasutto

    Citation: Orphanet Journal of Rare Diseases 2016 11:108

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  8. Content type: Review

    Birdshot chorioretinopathy (BCR) is a rare form of chronic, bilateral, posterior uveitis with a distinctive clinical phenotype, and a strong association with HLA-A29. It predominantly affects people in middle ...

    Authors: Evangelos Minos, Robert J. Barry, Sue Southworth, Annie Folkard, Philip I. Murray, Jay S. Duker, Pearse A. Keane and Alastair K. Denniston

    Citation: Orphanet Journal of Rare Diseases 2016 11:61

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  9. Content type: Review

    Vogt-Koyanagi-Harada disease (VKHD) is a rare granulomatous inflammatory disease that affects pigmented structures, such as eye, inner ear, meninges, skin and hair. This disease is mainly a Th1 lymphocyte medi...

    Authors: Marcelo Mendes Lavezzo, Viviane Mayumi Sakata, Celso Morita, Ever Ernesto Caso Rodriguez, Smairah Frutuoso Abdallah, Felipe T. G. da Silva, Carlos Eduardo Hirata and Joyce Hisae Yamamoto

    Citation: Orphanet Journal of Rare Diseases 2016 11:29

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  10. Content type: Research

    To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and US...

    Authors: Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said and Jose Alain Sahel

    Citation: Orphanet Journal of Rare Diseases 2015 10:157

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  11. Content type: Research

    Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and...

    Authors: Louise F. Porter, Roberto Gallego-Pinazo, Catherine L. Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes D. Manson and Graeme C. Black

    Citation: Orphanet Journal of Rare Diseases 2015 10:145

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  12. Content type: Research

    Usher syndrome (USH) is the most common disease causing combined deafness and blindness. It is predominantly an autosomal recessive genetic disorder with occasionally digenic cases. Molecular diagnosis of USH ...

    Authors: Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen and Ruifang Sui

    Citation: Orphanet Journal of Rare Diseases 2015 10:110

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  13. Content type: Review

    Uveitis describes a heterogeneous group of conditions characterized by intraocular inflammation. Since most of the sight-threatening forms of uveitis are individually rare, there has been an increasing tendenc...

    Authors: Alastair K. Denniston, Gary N. Holland, Andrej Kidess, Robert B. Nussenblatt, Annabelle A. Okada, James T. Rosenbaum and Andrew D. Dick

    Citation: Orphanet Journal of Rare Diseases 2015 10:97

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  14. Content type: Research

    Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-M...

    Authors: Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu…

    Citation: Orphanet Journal of Rare Diseases 2014 9:190

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  15. Content type: Research

    Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and molecular characteristics of 20 patients with dis...

    Authors: Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu-Wai-Man, Matthew Anthony Kirkman, Alex Korsten, Irenaeus F De Coo, Patrick Francis Chinnery and Thomas Klopstock

    Citation: Orphanet Journal of Rare Diseases 2014 9:158

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