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Rare opthalmological diseases

  1. Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have ...

    Authors: Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa and Maciej Robert Krawczyński

    Citation: Orphanet Journal of Rare Diseases 2020 15:345

    Content type: Research

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  2. The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing seque...

    Authors: Vanita Berry, Alex Ionides, Nikolas Pontikos, Michalis Georgiou, Jing Yu, Louise A. Ocaka, Anthony T. Moore, Roy A. Quinlan and Michel Michaelides

    Citation: Orphanet Journal of Rare Diseases 2020 15:333

    Content type: Research

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  3. Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has...

    Authors: Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho Jr., Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2020 15:320

    Content type: Research

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  4. The development of multicenter patient registries promotes the generation of scientific knowledge by using real-world data. A country-wide, web-based registry for inherited retinal dystrophies (IRDs) empowers ...

    Authors: João Pedro Marques, Ana Luísa Carvalho, José Henriques, Joaquim Neto Murta, Jorge Saraiva and Rufino Silva

    Citation: Orphanet Journal of Rare Diseases 2020 15:304

    Content type: Research

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  5. Keratoconus (KC) is a common, degenerative disorder of the cornea, and genetic factors play a key role in its development. However, the genetic etiology of KC is still unclear. This study used the family of tw...

    Authors: Xiao-dan Hao, Xiu-nian Chen, Yang-yang Zhang, Peng Chen, Chao Wei, Wei-yun Shi and Hua Gao

    Citation: Orphanet Journal of Rare Diseases 2020 15:227

    Content type: Research

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  6. Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been ...

    Authors: Sarah Michel, Clothilde Reynaud, Alejandra Daruich, Smail Hadj-Rabia, Dominique Bremond-Gignac, Christine Bodemer and Matthieu P. Robert

    Citation: Orphanet Journal of Rare Diseases 2020 15:223

    Content type: Research

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  7. Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes.

    Authors: Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko and Marta Corton

    Citation: Orphanet Journal of Rare Diseases 2020 15:207

    Content type: Research

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  8. The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.

    Authors: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos and Javier Llorca

    Citation: Orphanet Journal of Rare Diseases 2020 15:168

    Content type: Research

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  9. RPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment. This study aims to evaluate the associa...

    Authors: Xue Wang, Chaofeng Yu, Radouil T. Tzekov, Yihua Zhu and Wensheng Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:49

    Content type: Review

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  10. Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagno...

    Authors: Ahra Cho, Jose Ronaldo Lima de Carvalho Jr, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2020 15:32

    Content type: Research

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  11. Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-sy...

    Authors: Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2019 14:295

    Content type: Research

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  12. The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 (

    Authors: Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier and Marc Ferré

    Citation: Orphanet Journal of Rare Diseases 2019 14:214

    Content type: Research

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  13. Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CIS...

    Authors: Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen and Guohong Tian

    Citation: Orphanet Journal of Rare Diseases 2019 14:190

    Content type: Research

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  14. To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluor...

    Authors: Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2019 14:187

    Content type: Research

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  15. Childhood uveitis is a collection of chronic rare inflammatory eye disorders which result in visual loss in at least one eye of one fifth of affected children. Despite the introduction of novel systemic immuno...

    Authors: Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi and Alastair K. Denniston

    Citation: Orphanet Journal of Rare Diseases 2019 14:125

    Content type: Review

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  16. The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group...

    Authors: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson and Hélène Dollfus

    Citation: Orphanet Journal of Rare Diseases 2019 14:8

    Content type: Letter to the Editor

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:200

  17. Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive ...

    Authors: Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska and Maciej Robert Krawczynski

    Citation: Orphanet Journal of Rare Diseases 2018 13:221

    Content type: Research

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  18. SLIT2 is a protein ligand for the Roundabout (ROBO) receptor and was found to play a major role in repulsive midline axon guidance in central nervous system development. Based on studies utilizing knockout mod...

    Authors: Katherine Y. Liu, Jesse D. Sengillo, Gabriel Velez, Ruben Jauregui, Lynn Y. Sakai, Irene H. Maumenee, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

    Citation: Orphanet Journal of Rare Diseases 2018 13:138

    Content type: Research

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  19. Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum ...

    Authors: Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang and Lihua Cao

    Citation: Orphanet Journal of Rare Diseases 2018 13:94

    Content type: Research

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  20. Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber’s hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multic...

    Authors: Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete and Dan Miléa

    Citation: Orphanet Journal of Rare Diseases 2018 13:33

    Content type: Research

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  21. 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

    Content type: Review

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  22. 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

    Content type: Research

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  23. 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

    Content type: Review

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  24. 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

    Content type: Research

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  25. 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

    Content type: Position statement

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  26. 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

    Content type: Research

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  27. 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

    Content type: Research

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  28. 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

    Content type: Review

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  29. 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

    Content type: Review

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  30. 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

    Content type: Research

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  31. 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

    Content type: Research

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  32. 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

    Content type: Research

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  33. 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

    Content type: Review

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  34. 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

    Content type: Research

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  35. 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

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172