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Rare opthalmological diseases

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  1. Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include ...

    Authors: Fabiana Mallone, Luca Lucchino, Sandra Giustini, Alessandro Lambiase and Antonietta Moramarco
    Citation: Orphanet Journal of Rare Diseases 2022 17:223
  2. Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highl...

    Authors: Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat and Guy Lenaers
    Citation: Orphanet Journal of Rare Diseases 2022 17:197
  3. Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countri...

    Authors: Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz and Said El Shamieh
    Citation: Orphanet Journal of Rare Diseases 2022 17:175
  4. Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mut...

    Authors: Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan and Stephen H. Tsang
    Citation: Orphanet Journal of Rare Diseases 2022 17:146
  5. Retinoblastoma (RB) represents an adolescent eye malignancy. Long non-coding RNA (LncRNA) HOTAIR shows aberrant expression in many malignancies. This research investigated the mechanism of HOTAIR in RB.

    Authors: Ke Fu, Ke Zhang and Xiaoyu Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:119
  6. Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major ...

    Authors: Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou and Graeme C. Black
    Citation: Orphanet Journal of Rare Diseases 2022 17:110
  7. To investigate the clinical manifestations, visual outcomes and optical coherence tomographic (OCT) features of patients with posterior sympathetic ophthalmia (PSO).

    Authors: Hong Zhuang, Rui Zhang, Ting Zhang, Qing Chang and Gezhi Xu
    Citation: Orphanet Journal of Rare Diseases 2022 17:103
  8. Cenegermin (Oxervate, Dompè Farmaceutici, Milan, IT), a recombinant human NGF, is a potentially healing new drug for neurotrophic keratopathy (NK), a rare but challenging disease affecting the cornea. To date,...

    Authors: Emilio Pedrotti, Erika Bonacci, Chiara Chierego, Alessandra De Gregorio, Tiziano Cozzini, Tommaso Brighenti, Grazia Caldarella, Giovanlorenzo Pastore, Adriano Fasolo and Giorgio Marchini
    Citation: Orphanet Journal of Rare Diseases 2022 17:63
  9. Neurotrophic keratopathy (NK) is a rare, degenerative ocular disease characterized by reduction or loss of corneal sensitivity and development of non-healing corneal epithelial defects and ulcers. Cenegermin, ...

    Authors: Alice Bruscolini, Marco Marenco, Giuseppe Maria Albanese, Alessandro Lambiase and Marta Sacchetti
    Citation: Orphanet Journal of Rare Diseases 2022 17:57
  10. Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among...

    Authors: Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon and Karmen Trzupek
    Citation: Orphanet Journal of Rare Diseases 2021 16:514
  11. To evaluate the safety and preliminary efficacy of topical rVA576, a dual inhibitor of complement component 5 (C5) and leukotriene B4 (LTB4), in patients with recalcitrant atopic keratoconjunctivitis (AKC) in ...

    Authors: Sara Sánchez-Tabernero, Julia Fajardo-Sanchez, Wynne Weston-Davies, Mohit Parekh, Jaime Kriman, Stephen Kaye and Sajjad Ahmad
    Citation: Orphanet Journal of Rare Diseases 2021 16:270
  12. This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.

    Authors: Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi and Francesca Simonelli
    Citation: Orphanet Journal of Rare Diseases 2021 16:257
  13. Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The pro...

    Authors: Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J. Diaz-Corrales and Berta de la Cerda
    Citation: Orphanet Journal of Rare Diseases 2021 16:222
  14. Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective ...

    Authors: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady…
    Citation: Orphanet Journal of Rare Diseases 2021 16:200
  15. The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current s...

    Authors: Daphna Landau Prat, William R. Katowitz, Alanna Strong and James A. Katowitz
    Citation: Orphanet Journal of Rare Diseases 2021 16:197
  16. The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediate...

    Authors: Feng-Juan Gao, Dan-Dan Wang, Jian-Kang Li, Fang-Yuan Hu, Ping Xu, Fang Chen, Yu-He Qi, Wei Liu, Wei Li, Sheng-Hai Zhang, Qing Chang, Ge-Zhi Xu and Ji-Hong Wu
    Citation: Orphanet Journal of Rare Diseases 2021 16:174
  17. The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area.

    Authors: Arturo Carta, Stefania Favilla, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Bernardo Bianchi, Maria Beatrice Simonelli, Roberta Farci, Stefano Gandolfi and Paolo Mora
    Citation: Orphanet Journal of Rare Diseases 2021 16:162
  18. Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It ...

    Authors: Antonietta Moramarco, Fabiana Mallone, Marta Sacchetti, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Alessandro Lambiase and Sandra Giustini
    Citation: Orphanet Journal of Rare Diseases 2021 16:147
  19. Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relativ...

    Authors: 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…
    Citation: Orphanet Journal of Rare Diseases 2021 16:142
  20. To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rare...

    Authors: Michalis Georgiou, Naser Ali, Elizabeth Yang, Parampal S. Grewal, Tryfon Rotsos, Nikolas Pontikos, Anthony G. Robson and Michel Michaelides
    Citation: Orphanet Journal of Rare Diseases 2021 16:128
  21. Patients have been showing a growing interest in taking active participation in decision making, and having the opportunity to drive clinical investigation. This is more common for patients who have a rare dis...

    Authors: Pedro Valdivielso, Marta Jacinto, Guillemette Devernois, Jorge Laplana, Maria García-Fernández and Ludovic Martin
    Citation: Orphanet Journal of Rare Diseases 2021 16:71
  22. Thygeson’s superficial punctate keratitis (TSPK) is a rare and still poorly understood disease of the ocular surface, responsible for recurrent episodes of photophobia and eye pain. While TSPK is considered as...

    Authors: Rana Saad, Sami Saad, Oscar Haigh, Domitille Molinari, Marc Labetoulle and Antoine Rousseau
    Citation: Orphanet Journal of Rare Diseases 2021 16:55
  23. Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the ...

    Authors: Noémi Széll, Tamás Fehér, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, Márta Janáky, Andrea Facskó and Zoltán Sohajda
    Citation: Orphanet Journal of Rare Diseases 2021 16:45
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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

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

  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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
  50. 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