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Rare opthalmological diseases

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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