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dc.contributor.advisorNarayanan, Vinodhen
dc.contributor.authorMohan, Prithvi Mrinalini
dc.creatorMohan, Prithvi Mrinalinien
dc.date.accessioned2017-08-08T16:24:44Z
dc.date.available2017-08-08T16:24:44Z
dc.date.issued2017
dc.identifier.citationMohan, Prithvi Mrinalini. (2017). Optic Nerve Hypoplasia Plus: A New Way of Looking at Septo-Optic Dysplasia (Bachelor's thesis, University of Arizona, Tucson, USA).
dc.identifier.urihttp://hdl.handle.net/10150/625105
dc.description.abstractSepto-optic dysplasia (SOD) is a rare congenital disorder that affects 1/10,000 live births. At its core, SOD is a disorder resulting from improper embryological development of mid-line brain structures. To date, there is no comprehensive understanding of the etiology of SOD. Currently, SOD is diagnosed based on the presence of at least two of the following three factors: (i) optic nerve hypoplasia (ii) improper pituitary gland development and endocrine dysfunction and (iii) mid-line brain defects, including agenesis of the septum pellucidum and/or corpus callosum. A literature review of existing research on the disorder was conducted. The medical history and genetic data of 6 patients diagnosed with SOD were reviewed to find damaging variants. Novel mutations were found in the sequencing data in 3 of the 6 patients. I also realized that the diagnostic criteria for SOD tend to be inconsistent and I have recommended a reorganization to focus on the optic nerve hypoplasia as the central factor of the disorder. I will be writing up my findings to submit for review and potential publication in the journal Pediatric Neurology. The clinic will be pursuing further molecular studies to understand if these mutations are causes of the disorder.
dc.language.isoen_USen
dc.publisherThe University of Arizona.en
dc.rightsCopyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.en
dc.rights.urihttp://rightsstatements.org/vocab/InC/1.0/
dc.titleOptic Nerve Hypoplasia Plus: A New Way of Looking at Septo-Optic Dysplasiaen_US
dc.typetexten
dc.typeElectronic Thesisen
thesis.degree.grantorUniversity of Arizonaen
thesis.degree.levelbachelorsen
thesis.degree.disciplineHonors Collegeen
thesis.degree.disciplinePhysiologyen
thesis.degree.nameB.S.en
thesis.degree.nameB.A.en
refterms.dateFOA2018-04-26T04:03:19Z
html.description.abstractSepto-optic dysplasia (SOD) is a rare congenital disorder that affects 1/10,000 live births. At its core, SOD is a disorder resulting from improper embryological development of mid-line brain structures. To date, there is no comprehensive understanding of the etiology of SOD. Currently, SOD is diagnosed based on the presence of at least two of the following three factors: (i) optic nerve hypoplasia (ii) improper pituitary gland development and endocrine dysfunction and (iii) mid-line brain defects, including agenesis of the septum pellucidum and/or corpus callosum. A literature review of existing research on the disorder was conducted. The medical history and genetic data of 6 patients diagnosed with SOD were reviewed to find damaging variants. Novel mutations were found in the sequencing data in 3 of the 6 patients. I also realized that the diagnostic criteria for SOD tend to be inconsistent and I have recommended a reorganization to focus on the optic nerve hypoplasia as the central factor of the disorder. I will be writing up my findings to submit for review and potential publication in the journal Pediatric Neurology. The clinic will be pursuing further molecular studies to understand if these mutations are causes of the disorder.


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