73
Views
43
CrossRef citations to date
0
Altmetric
Research Article

Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma

, , , , , & show all
Pages 127-138 | Published online: 08 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (8)

Alicia Galindo-Ferreiro, Sahar M Elkhamary, Fatimah Alhammad, Laila AlGhafri, Manar AlWehaib, Dalal Alessa, Saif Aldossari, Patricia Akaishi, Rajiv Khadekar, Osama AlShaikh & Silvana Artioli Schellini. (2019) Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital. Orbit 38:3, pages 192-198.
Read now
Reham H. Tomairek, Maha M. Amin, Karima Raafat, Sawsan Abdel Hady & Ahmed Elkotoury. (2018) Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study. Seminars in Ophthalmology 33:5, pages 613-619.
Read now
R. J. Peiris-John, S. Attanayake, L. Daskon, A. R. Wickremasinghe & S. Ameratunga. (2014) Disability studies in Sri Lanka: priorities for action. Disability and Rehabilitation 36:20, pages 1742-1748.
Read now
Vasudha Kemmanu, Kaushik Hegde, Smitha Devagirkar, Chandrakant Pujar, Bhujang K. Shetty, G. Kumaramanickavel & Catherine A. McCarty. (2013) The Pavagada Pediatric Eye Disease Study: Objectives, Methodology and Participant Characteristics. Ophthalmic Epidemiology 20:3, pages 176-187.
Read now
Azam Khorshidi, Laurie Russell, Steven Bamforth, Garry Drummond, Royce Johnson & Ordan J. Lehmann. (2012) Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity. Ophthalmic Genetics 33:4, pages 208-220.
Read now
Zachary D. Pearce, Patrick J. Droste, Thomas M. Aaberg$suffix/text()$suffix/text() & Adam S. Hassan. (2012) Ophthalmic and Systemic Findings in Interstitial Deletions of Chromosome 14q: A Case Feport and Literature Review. Ophthalmic Genetics 33:3, pages 161-166.
Read now
Parikshit Gogate, H. Kishore, Kuldeep Dole, Jyoti Shetty, Clare Gilbert, Satish Ranade, Mohan Kumar, Srihari & Madan Deshpande. (2009) The Pattern of Childhood Blindness in Karnataka, South India. Ophthalmic Epidemiology 16:4, pages 212-217.
Read now
Stella J. Hornby, Simon J. Ward, Clare E. Gilbert, Lalit Dandona, Allen Foster & R. Barry Jones. (2002) Environmental risk factors in congenital malformations of the eye. Annals of Tropical Paediatrics 22:1, pages 67-77.
Read now

Articles from other publishers (35)

Bhavana Kunisetty, Bailey A. Martin-Giacalone, Xiaonan Zhao, Pamela N. Luna, Brian P. Brooks, Robert B. Hufnagel, Chad A. Shaw, Jill A. Rosenfeld, A. J. Agopian, Philip J. Lupo & Daryl A. Scott. (2024) High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Investigative Opthalmology & Visual Science 65:3, pages 25.
Crossref
Daniel JacksonMariya Moosajee. (2023) The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood. Annual Review of Genomics and Human Genetics 24:1, pages 177-202.
Crossref
Panfeng Wang, Pengsen Wu, Junwen Wang, Yiyan Zeng, Yi Jiang, Yingwei Wang, Shiqiang Li, Xueshan Xiao & Qingjiong Zhang. (2023) Missense Mutations in MAB21L1 : Causation of Novel Autosomal Dominant Ocular BAMD Syndrome . Investigative Opthalmology & Visual Science 64:3, pages 19.
Crossref
Shunji Kusaka. 2023. Pediatric Vitreoretinal Surgery. Pediatric Vitreoretinal Surgery 451 458 .
Brian Thompson, Ying Chen, Emily A. Davidson, Rolando Garcia-Milian, Jaya Prakash Golla, Nicholas Apostolopoulos, David J. Orlicky, Kevin Schey, David C. Thompson & Vasilis Vasiliou. (2021) Impaired GSH biosynthesis disrupts eye development, lens morphogenesis and PAX6 function. The Ocular Surface 22, pages 190-203.
Crossref
Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert & Wolfgang Berger. (2021) Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 12:1, pages 65.
Crossref
Inês Q. Saraiva & Esmeralda Delgado. (2020) Congenital ocular malformations in dogs and cats: 123 cases. Veterinary Ophthalmology 23:6, pages 964-978.
Crossref
Daniel Jackson, Samantha Malka, Philippa Harding, Juliana Palma, Hannah Dunbar & Mariya Moosajee. (2020) Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184:3, pages 578-589.
Crossref
Samantha Carrillo-Rosas, Chantal Weber, Lorraine Fievet, Nadia Messaddeq, Alice Karam & Yvon Trottier. (2019) Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors. Human Molecular Genetics 28:6, pages 912-927.
Crossref
Iris Lee, John D. Ng, Kevin R. Schou, Maureen Maloney-Schou & Katherine Schou. 2019. Oculofacial, Orbital, and Lacrimal Surgery. Oculofacial, Orbital, and Lacrimal Surgery 723 730 .
Maria Kaukonen, Sean Woods, Saija Ahonen, Seppo Lemberg, Maarit Hellman, Marjo K. Hytönen, Perttu Permi, Tom Glaser & Hannes Lohi. (2018) Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Cell Reports 23:9, pages 2643-2652.
Crossref
Xiu-Feng Huang, Lue Xiang, Wan Cheng, Fei-Fei Cheng, Kai-Wen He, Bo-Wen Zhang, Si-Si Zheng, Ru-Yi Han, Yi-Han Zheng, Xiao-Tao Xu, Huan-Yun Yu, Wenjuan Zhuang, Yuk Fai Leung & Zi-Bing Jin. (2018) Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. Experimental & Molecular Medicine 50:4, pages 1-11.
Crossref
. 2018. Imaging in Otolaryngology. Imaging in Otolaryngology 332 .
Enrico Marani & Ciska HeidaEnrico Marani & Ciska Heida. 2018. Head and Neck. Head and Neck 221 257 .
Karen E. Revere, Jill A. Foster, William R. Katowitz & James A. Katowitz. 2018. Pediatric Oculoplastic Surgery. Pediatric Oculoplastic Surgery 311 358 .
. 2017. Diagnostic Imaging: Head and Neck. Diagnostic Imaging: Head and Neck 782 785 .
Bola J. Adekoya, Modupe M. Balogun, Bola G. Balogun & Rosemary A. Ngwu. (2014) Spectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria. International Ophthalmology 35:3, pages 311-317.
Crossref
Wen Wen, Lakshmi Pillai-Kastoori, Stephen G. Wilson & Ann C. Morris. (2015) Sox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis. Developmental Biology 399:1, pages 139-153.
Crossref
SushankAshok Bhalerao, Mahesh Tandon, Satyaprakash Singh, Shraddha Dwivedi, Santosh Kumar & Jagriti Rana. (2015) Visual impairment and blindness among the students of blind schools in Allahabad and its vicinity: A causal assessment. Indian Journal of Ophthalmology 63:3, pages 254.
Crossref
Holly E. Babcock, Sunit Dutta, Ramakrishna P. Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab & Brian P. Brooks. (2014) aldh7a1 Regulates Eye and Limb Development in Zebrafish. PLoS ONE 9:7, pages e101782.
Crossref
D Mitry, C Bunce, R Wormald, S Leamon, P Simkiss, P Cumberland, J Rahi & R Bowman. (2013) Causes of certifications for severe sight impairment (blind) and sight impairment (partial sight) in children in England and Wales. British Journal of Ophthalmology 97:11, pages 1431-1436.
Crossref
Jiwoon Lee, Bum-Kyu Lee & Jeffrey M. Gross. (2013) Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata. Human Molecular Genetics 22:17, pages 3568-3582.
Crossref
Brian P. Brooks. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 15 .
Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Annick Toutain, Alain Verloes, Frédérique Gatelais, Marie Legendre, Laurence Faivre, Sandrine Passemard, Azzedine Aboura, Sophie Kaltenbach, Samuel Quentin, Céline Dupont, Anne-Claude Tabet, Serge Amselem, Jacques Elion, Pierre Gressens, Eva Pipiras & Brigitte Benzacken. (2012) Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. European Journal of Human Genetics 20:5, pages 527-533.
Crossref
Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E. Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N. Kennedy, SallyAnn Lynch, Andrew Green & Sean Ennis. (2011) First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype . Human Mutation 32:12, pages 1417-1426.
Crossref
D K Patel, I Tajunisah, C Gilbert & V Subrayan. (2011) Childhood blindness and severe visual impairment in Malaysia: a nationwide study. Eye 25:4, pages 436-442.
Crossref
Sibel Ugur Iseri, Robert J. Osborne, Martin Farrall, Alexander William Wyatt, Ghazala Mirza, Gudrun Nürnberg, Christian Kluck, Helen Herbert, Angela Martin, Muhammad Sajid Hussain, J. Richard O. Collin, Mark Lathrop, Peter Nürnberg, Jiannis Ragoussis & Nicola K. Ragge. (2009) Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies . Human Mutation 30:10, pages 1378-1386.
Crossref
Lan Chang, Delphine Blain, Stefano Bertuzzi & Brian P Brooks. (2006) Uveal coloboma: clinical and basic science update. Current Opinion in Ophthalmology 17:5, pages 447-470.
Crossref
Tuanlian Luo, Yasuo Sakai, Elisabeth Wagner & Ursula C. Dräger. (2006) Retinoids, eye development, and maturation of visual function. Journal of Neurobiology 66:7, pages 677-686.
Crossref
Øivind J. Kanavin, Monika Haakonsen, Andrès Server, Tariq J. Bajwa, Marjo S. van der Knaap & Petter Strømme. (2006) Microphthalmia and brain atrophy: A novel neurodegenerative disease. Annals of Neurology 59:4, pages 719-723.
Crossref
Nicola K. Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J. Richard O. Collin, Anthony J. Vivian, Samantha L. Free, Pamela Thompson, Kathleen A. Williamson, Sanjay M. Sisodiya, Veronica van Heyningen & David R. FitzPatrick. (2005) SOX2 anophthalmia syndrome . American Journal of Medical Genetics Part A 135A:1, pages 1-7.
Crossref
Tanya M. Bardakjian & Adele Schneider. (2004) Association of anophthalmia and esophageal atresia: Four new cases identified by the anophthalmia/microphthalmia clinical registry. American Journal of Medical Genetics Part A 132A:1, pages 54-56.
Crossref
Jugnoo S Rahi & Noriko Cable. (2003) Severe visual impairment and blindness in children in the UK. The Lancet 362:9393, pages 1359-1365.
Crossref
Alison Male, Angela Davies, Anne Bergbaum, Jean Keeling, David FitzPatrick, Caroline Mackie Ogilvie & Jonathan Berg. (2002) Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. European Journal of Human Genetics 10:12, pages 807-812.
Crossref
Stella J Hornby, Lalit Dandona, Allen Foster, R Barry Jones & Clare E Gilbert. (2007) Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India. Developmental Medicine & Child Neurology 43:6, pages 392-398.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.