Kanski J, Clinical Ophthalmology, A Systemic Approach. 6. Auflage. 2007.
Bildquelle: AAO
2 Bildquelle: AAO
Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS. Septo-optische Dysplasie und hypophysärer Zwergwuchs. Lancet. 1970;1:893-894
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.
Williamson WD, Desmond MM, Andrew LP, Hicks RN. Visuell beeinträchtigte Kleinkinder in den 1980er Jahren. Eine Übersicht über ätiologische Faktoren und zusätzliche Behinderungsbedingungen in einer Schulpopulation. Clin Pediatr. 1987;26:241-244.
Patel L, McNally R, Harrison E, Lloyd IC, Clayton PE. Geografische Verteilung von Sehnervenhypoplasie und septo-optischer Dysplasie in Nordwest-England. J Pediatr. 2006;148:85-88
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.
9.0 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
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. Mutationen im Homeobox-Gen HESX1/Hesx1 assoziiert mit septo-optischer Dysplasie bei Mensch und Maus. Nat Genet 1998;19:125-33.
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.
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 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 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.
Slavotinek AM, Chao R, Vacik T, et al. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: Die erste Beschreibung eines VAX1-Phänotyps beim Menschen. Human Mutation. 2012;33:364-368.
16 Macgregor S, Hewitt AW, Hysi PG, et al. Genomweite Assoziation identifiziert ATOH7 als ein wichtiges Gen, das die Größe des menschlichen Sehnervenkopfes bestimmt. Human molecular genetics. 2010;19:2716-2724.
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.
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.
19.0 19.1 19.2 19.3 Pilat A, PhD, Sibley D, BMBS, McLean RJ, MSc, Proudlock FA, PhD, Gottlob I, MD. Hochauflösende Bildgebung des Sehnervs und der Retina bei Sehnervenhypoplasie. Ophthalmology. 2015;122:1330-1339.
20.0 20.1 Ouvrier R, Billson F: Optic nerve hypoplasia: a review. Zeitschrift für Kinderneurologie 1986, 1(3):181-188.
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. Accessed April 23, 2018.
Kaur S, Jain S, Sodhi HBS, Rastogi A, Kamlesh. Optic nerve hypoplasia. Oman Journal of Ophthalmology. 2013;6:77-82.
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
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.
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
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.
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.