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Leading causes of certifiable visual loss in England and Wales during the year ending 31 March 2013
Author / Creator:Quartilho, A ; Simkiss, P ; Zekite, A ; Xing, W ; Wormald, R ; Bunce, C
Publisher:London: Nature Publishing Group UK
Journal title:Eye (London), 2016-04, Vol.30 (4), p.602-607
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Author / Creator:Chen, Chun-An ; Bosch, Daniëlle G.M. ; Cho, Megan T. ; Rosenfeld, Jill A. ; Shinawi, Marwan ; Lewis, Richard Alan ; Mann, John ; Jayakar, Parul ; Payne, Katelyn ; Walsh, Laurence ; Moss, Timothy ; Schreiber, Allison ; Schoonveld, Cheri ; Monaghan, Kristin G. ; Elmslie, Frances ; Douglas, Ganka ; Boonstra, F. Nienke ; Millan, Francisca ; Cremers, Frans P.M. ; McKnight, Dianalee ; Richard, Gabriele ; Juusola, Jane ; Kendall, Fran ; Ramsey, Keri ; Anyane-Yeboa, Kwame ; Malkin, Elfrida ; Chung, Wendy K. ; Niyazov, Dmitriy ; Pascual, Juan M. ; Walkiewicz, Magdalena ; Veluchamy, Vivekanand ; Li, Chumei ; Hisama, Fuki M. ; de Vries, Bert B.A. ; Schaaf, Christian
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-11, Vol.18 (11), p.1143-1150
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Author / Creator:Perrault, Isabelle ; Hanein, Sylvain ; Zanlonghi, Xavier ; Serre, Valérie ; Nicouleau, Michael ; Defoort-Delhemmes, Sabine ; Delphin, Nathalie ; Fares-Taie, Lucas ; Gerber, Sylvie ; Xerri, Olivia ; Edelson, Catherine ; Goldenberg, Alice ; Duncombe, Alice ; Le Meur, Gylène ; Hamel, Christian ; Silva, Eduardo ; Nitschke, Patrick ; Calvas, Patrick ; Munnich, Arnold ; Roche, Olivier ; Dollfus, Hélène ; Kaplan, Josseline ; Rozet, Jean-Michel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-09, Vol.44 (9), p.975-977
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Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum
Author / Creator:Rosanio, Francesco Maria ; Di Candia, Francesca ; Occhiati, Luisa ; Fedi, Ludovica ; Malvone, Francesco Paolo ; Foschini, Davide Fortunato ; Franzese, Adriana ; Mozzillo, Enza
Publisher:Switzerland: MDPI AG
Journal title:International journal of environmental research and public health, 2022-01, Vol.19 (2), p.835
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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
Author / Creator:Acharya, Anushree ; Raza, Syed Irfan ; Anwar, Muhammad Zeeshan ; Bharadwaj, Thashi ; Liaqat, Khurram ; Khokhar, Muhammad Akram Shahzad ; Everard, Jenna L ; Nasir, Abdul ; Nickerson, Deborah A ; Bamshad, Michael J ; Ansar, Muhammad ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1009-1018
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Characteristics of beta parapapillary atrophy in primary angle-closure suspect
Author / Creator:Xiang, Fei ; Zhang, Ye ; Zhang, Qing ; Pan, Xiaohua ; Feng, Hui ; Zhang, Meijuan ; Li, Caixia ; Ji, Qianqian ; Li, Zhi ; Li, Shuning
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ open ophthalmology, 2024-04, Vol.9 (1), p.e001529
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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Author / Creator:Martín-Hernández, Elena ; Rodríguez-García, María Elena ; Camacho, Ana ; Matilla-Dueñas, Antoni ; García-Silva, María Teresa ; Quijada-Fraile, Pilar ; Corral-Juan, Marc ; Tejada-Palacios, Pilar ; de Las Heras, Rogelio Simón ; Arenas, Joaquín ; Martín, Miguel A. ; Martínez-Azorín, Francisco
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2016-10, Vol.17 (4), p.259-263
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Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly
Author / Creator:Maksimova, Nadezda ; Hara, Kenju ; Nikolaeva, Irina ; Chun-Feng, Tan ; Usui, Tomoaki ; Takagi, Mineo ; Nishihira, Yasushi ; Miyashita, Akinori ; Fujiwara, Hiroshi ; Oyama, Tokuhide ; Nogovicina, Anna ; Sukhomyasova, Aitalina ; Potapova, Svetlana ; Kuwano, Ryozo ; Takahashi, Hitoshi ; Nishizawa, Masatoyo ; Onodera, Osamu
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-08, Vol.47 (8), p.538-548
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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
Author / Creator:Sobhani, Maryam ; Tabatabaiefar, Mohammad Amin ; Ghafouri-Fard, Soudeh ; Rajab, Asadollah ; Hojjat, Asal ; Kajbafzadeh, Abdol-Mohammad ; Noori-Daloii, Mohammad Reza
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-01, Vol.21 (1), p.13-13, Article 13
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Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
Author / Creator:Galvão, Cláudia R C ; Cavalcante, Priscilla M A ; Olinda, Ricardo ; Graciani, Zodja ; Zatz, Mayana ; Kok, Fernando ; Santos, Silvana ; Lancman, Selma
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2019-10, Vol.19 (1), p.256-256, Article 256
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Binasal hemianopia caused by pneumosinus dilatans of the sphenoid sinuses
Author / Creator:Kim, Won ; Kim, Myung-Mi
Publisher:India: Wolters Kluwer India Pvt. Ltd
Journal title:Indian journal of ophthalmology, 2019-10, Vol.67 (10), p.1772-1775
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Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis
Author / Creator:Monteiro, Mário Luiz R ; Hokazono, Kenzo ; Cunha, Leonardo P ; Biccas Neto, Laurentino
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2018-10, Vol.18 (1), p.278-278, Article 278
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Progressive ataxia with oculo-palatal tremor and optic atrophy
Author / Creator:Papachatzaki, M. M. ; Ali, N. ; Arshad, Q. ; Cader, S. ; Peppas, I. ; Everett, C. ; Bronstein, A. M. ; Schmierer, K.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2013-11, Vol.260 (11), p.2903-2905
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Optical coherence tomography analysis of axonal loss in band atrophy of the optic nerve
Author / Creator:Monteiro, M L R ; Leal, B C ; Rosa, A A M ; Bronstein, M D
Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
Journal title:British journal of ophthalmology, 2004-07, Vol.88 (7), p.896-899
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Profile of patients presenting at a low vision clinic in a developing country
Author / Creator:Olusanya, Bolutife ; Onoja, Godfrey ; Ibraheem, Waheed ; Bekibele, Charles
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2012-07, Vol.12 (1), p.31-31, Article 31
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The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White
Author / Creator:Ruiter, E Mariken ; Siers, Marloes H ; van den Elzen, Christa ; van Engelen, Baziel G ; Smeitink, Jan A M ; Rodenburg, Richard J ; Hol, Frans A
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.155-161
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Methanol toxicity presenting as haemorrhagic putaminal necrosis and optic atrophy
Author / Creator:Singh, Prabhat ; Paliwal, Vimal Kumar ; Neyaz, Zafar ; Kanaujia, Vikas
Publisher:England: BMJ Publishing Group Ltd
Journal title:Practical neurology, 2013-06, Vol.13 (3), p.204-205
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Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings
Author / Creator:Durmaz, B. ; Wollnik, B. ; Cogulu, O. ; Li, Y. ; Tekgul, H. ; Hazan, F. ; Ozkinay, F.
Publisher:Darmstadt: Steinkopff-Verlag
Journal title:Journal of neurology, 2009-03, Vol.256 (3), p.416-419
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Incontinentia pigmenti: a newborn with characteristic skin lesions and bilateral optic atrophy: case report and review of literature
Author / Creator:Azizzadeh, Maryam ; Rezaei, Morteza ; Hashemi, Nargess
Publisher:Iran: Tehran University of Medical Sciences
Journal title:Acta medica Iranica, 2013, Vol.51 (11), p.805-810
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Ocular symptoms secondary to meningeal carcinomatosis in a patient with lung adenocarcinoma: a case report
Author / Creator:Sabater, Alfonso L ; Sadaba, Luis M ; de Nova, Elisa
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2012-12, Vol.12 (1), p.65-65, Article 65
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Leading causes of certifiable visual loss in England and Wales during the year ending 31 March 2013

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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

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Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

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Characteristics of beta parapapillary atrophy in primary angle-closure suspect

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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

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Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

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Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up

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Binasal hemianopia caused by pneumosinus dilatans of the sphenoid sinuses

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Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis

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Progressive ataxia with oculo-palatal tremor and optic atrophy

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Optical coherence tomography analysis of axonal loss in band atrophy of the optic nerve

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Profile of patients presenting at a low vision clinic in a developing country

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The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

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Methanol toxicity presenting as haemorrhagic putaminal necrosis and optic atrophy

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Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings

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Incontinentia pigmenti: a newborn with characteristic skin lesions and bilateral optic atrophy: case report and review of literature

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Ocular symptoms secondary to meningeal carcinomatosis in a patient with lung adenocarcinoma: a case report

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