Hipoplazja nerwu wzrokowego

1. Kański J, Clinical Ophthalmology, A Systemic Approach. 6th edition. 2007.
2. Źródło obrazu: AAO
3. 2 Źródło obrazu: AAO
4. Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet. 1970;1:893-894
5. Hatton D, Schwietz E, Boyer B, Rychwalski P. Babies Count: the national registry for children with visual impairments, birth to 3 years. J AAPOS. 2007;11:351-355.
6. Williamson WD, Desmond MM, Andrew LP, Hicks RN. Visually impaired infants in the 1980s. A survey of etiologic factors and additional handicapping conditions in a school population. Clin Pediatr. 1987;26:241-244.
7. Patel L, McNally R, Harrison E, Lloyd IC, Clayton PE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006;148:85-88
8. Teär Fahnehjelm K, Dahl S, Martin L, et al. Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. Acta Ophthalmologica. 2014;92:563-570.
9. 9.0 9.1 Mohney BG, Young RC, Diehl N. Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia. JAMA Ophthalmology. 2013;131:898-902
10. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Mårtensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-33.
11. Hingorani M., Kathleen A. Williamson, Anthony T. Moore, Veronica van Heyningen; Detailed Ophthalmologic Evaluation of 43 Individuals with PAX6 Mutations. Invest. Ophthalmol. Vis. Sci. 2009;50(6):2581-2590. doi: 10.1167/iovs.08-2827.
12. Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. The Journal of clinical investigation. 2006;116:2442-2455.
13. 13 Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, et al. NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability. American Journal of Human Genetics. 2014;94:303-309.
14. 14 Schilter K, Schneider A, Bardakjian T, et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clinical Genetics. 2011;79:158-168.
15. Slavotinek AM, Chao R, Vacik T, et al. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. Human Mutation. 2012;33:364-368.
16. 16 Macgregor S, Hewitt AW, Hysi PG, et al. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Human molecular genetics. 2010;19:2716-2724.
17. Zollino M, Marangi G, Ponzi E, et al. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of medical genetics. 2015;52:804.
18. Garcia-Filion P, Fink C, Geffner ME, Borchert M. Optic nerve hypoplasia in North America: A re-appraisal of perinatal risk factors. Acta Ophthalmologica. 2010;88:527-534.
19. 19.0 19.1 19.2 19.3 Pilat A, PhD, Sibley D, BMBS, McLean RJ, MSc, Proudlock FA, PhD, Gottlob I, MD. High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia. Ophthalmology. 2015;122:1330-1339.
20. 20.0 20.1 Ouvrier R, Billson F: Optic nerve hypoplasia: a review. Journal of child neurology 1986, 1(3):181-188.
21. 21.0 21.1 21.2 21.3 Smith PM, Rismondo V. Diagnosing Septo-Optic Dysplasia. https://www.aao.org/eyenet/article/diagnosing-septo-optic-dysplasia. Dostęp 23 kwietnia 2018 r.
22. Kaur S, Jain S, Sodhi HBS, Rastogi A, Kamlesh. Optic nerve hypoplasia (hipoplazja nerwu wzrokowego). Oman journal of ophthalmology. 2013;6:77-82.
23. 23.0 23.1 Garcia-Filion P, Epport K, Nelson M, Azen C, Geffner ME, Fink C, Borchert M. Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study. Pediatrics. 2008;121:e653-e659
24. Ahmad T, Garcia-Filion P, Borchert M, Kaufman F, Burkett L, Geffner M. Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study. J Pediatr. 2006 Jan;148(1):78-84.
25. Margalith D, Jan JE, McCormick AQ, Tze WJ, Lapointe J. Clinical spectrum of optic nerve hypoplasia: a review of 51 patients. Dev Med Child Neurol. 1984;26:311-322
26. Burke JP, O’Keefe M, Bowell R. Optic nerve hypoplasia, encephalopathy, and neurodevelopmental handicap. Br J Ophthalmol. 1991 Apr;75(4):236-9. PubMed PMID: 2021594; PubMed Central PMCID: PMC1042331.
27. Ryabets-Lienhard A, Stewart C, Borchert M, Geffner ME. The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. Advances in pediatrics. 2016;63:127.

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