Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives

References

• De Morsier G. Studies on malformation of cranioencephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract. Schweiz Arch Neurol Psychiatr. 1956;77(1–2):267–292.
   Google Scholar
• Izenberg N, Rosenbtum M, Parks J. The endocrine spectrum of septo-optic dysplasia. Clin Pediatr (Phila). 1984;23(11):632–636. doi:10.1177/0009922884023011056488662
   PubMed Web of Science ®Google Scholar
• Brodsky MC. Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Surv Ophthalmol. 1998;42(5):489–490. doi:10.1016/s0039-6257(97)00131-89548577
   PubMedGoogle Scholar
• Miller SP, Shevell MI, Patenaude Y, Poulin C, O’Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000;54(8):1701–1703. doi:10.1212/wnl.54.8.170110762523
   PubMed Web of Science ®Google Scholar
• Ryabets-Lienhard A, Stewart C, Borchert M, Geffner M. The optic nerve hypoplasia spectrum. Adv Pediatr. 2016;63(1):127–146. doi:10.1016/j.yapd.2016.04.00927426898
   PubMedGoogle Scholar
• Green BN, Johnson CD, Adams A. Writing narrative literature reviews for peer-reviewed journals: secrets of the trade. J Chiropr Med. 2006;5(3):101–117. doi:10.1016/S0899-3467(07)60142-619674681
   PubMed Web of Science ®Google Scholar
• McCabe M, Alatzoglou K, Dattani M. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab. 2011;25(1):115–124. doi:10.1016/j.beem.2010.06.00821396578
   PubMed Web of Science ®Google Scholar
• Acers TE. Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome. Trans Am Ophthalmol Soc. 1981;79:425–457.7043865
   PubMedGoogle Scholar
• Lubinsky MS. Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet. 1997;69(3):235–236. doi:10.1016/j.survophthal.2013.02.0049096749
   PubMed Web of Science ®Google Scholar
• Alt C, Shevell M, Poulin C, Rosenblatt B, Saint-Martin C, Srour M. Clinical and radiologic spectrum of septo-optic dysplasia: review of 17 cas es. J Child Neurol. 2017;32(9):797–803. doi:10.1177/088307381770730028482731
   PubMed Web of Science ®Google Scholar
• Khaper T, Bunge M, Clark I, et al. Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: geographic clustering in Northern Canada. Paediatr Child Health. 2017;22(8):445–453. doi:10.1093/pch/pxx11829479262
   PubMed Web of Science ®Google Scholar
• Kelberman D, Dattani M. Genetics of septo-optic dysplasia. Pituitary. 2007;10(4):393–407. doi:10.1007/s11102-007-0055-517587179
   PubMed Web of Science ®Google Scholar
• Kelberman D, Dattani M. Septo-optic dysplasia – novel insights into the aetiology. Horm Res. 2008;69(5):257–265. doi:10.1159/00011485618259104
   PubMedGoogle Scholar
• Garne E, Rissmann A, Addor M, et al. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study. Eur J Med Genet. 2018;61(9):483–488. doi:10.1016/j.ejmg.2018.05.01029753093
   PubMed Web of Science ®Google Scholar
• Tornqvist K, Ericsson A, Kallen B. Optic nerve hypoplasia: risk factors and epidemiology. Acta Ophthalmol Scand. 2002;80(3):300–304. doi:10.1034/j.1600-0420.2002.800313.x12059870
   PubMedGoogle Scholar
• Patel L, McNally R, Harrison E, Lloyd I, Clayton P. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006;148(1):85–88. doi:10.1016/j.jpeds.2005.07.03116423603
   PubMed Web of Science ®Google Scholar
• Atapattu N, Ainsworth J, Willshaw H, et al. Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. Horm Res Paediatr. 2012;78(2):81–87. doi:10.1159/00034114822907285
   PubMed Web of Science ®Google Scholar
• Siatkowski R, Sanchez J, Andrade R, Alvarez A. The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia. Ophthalmology. 1997;104(3):493–496. doi:10.1016/s0161-6420(97)30286-39082278
   PubMed Web of Science ®Google Scholar
• Borchert M. Reappraisal of the optic nerve hypoplasia syndrome. J Neuro-Ophthalmol. 2012;32(1):58–67. doi:10.1097/wno.0b013e31824442b8
   Web of Science ®Google Scholar
• Riedl S, Müllner-Eidenböck A, Prayer D, Bernert G, Frisch H. Auxological, ophthalmological, neurological and MRI findings in 25 Austrian patients with Septo-Optic Dysplasia (SOD). Horm Res Paediatr. 2002;58(3):16–19. doi:10.1159/000066484
   Web of Science ®Google Scholar
• Riedl S, Vosahlo J, Battelino T, et al. Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr. 2008;167(11):1269–1276. doi:10.1007/s00431-007-0666-x18231810
   PubMed Web of Science ®Google Scholar
• Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr Neurol. 2006;34(1):66–71. doi:10.1016/j.pediatrneurol.2005.07.00416376284
   PubMed Web of Science ®Google Scholar
• Ferran K, Paiva I, Gilban D, et al. Septo-optic dysplasia. Arq Neuropsiquiatr. 2010;68(3):400–405. doi:10.1590/s0004-282x201000030001420602044
   PubMed Web of Science ®Google Scholar
• Hellström A, Aronsson M, Axelson C, et al. Children with septo-optic dysplasia – how to improve and sharpen the diagnosis. Horm Res Paediatr. 2000;53(1):19–25. doi:10.1159/000053200
   Web of Science ®Google Scholar
• Yates J, Troester M, Ingram D. Sleep in children with congenital malformations of the central nervous system. Curr Neurol Neurosci Rep. 2018;18(7). doi:10.1007/s11910-018-0850
   Web of Science ®Google Scholar
• Borchert M, Mccullogh D, Rother C, Stout A. Clinical assessment, optic disk measurements, and visual-evoked potential in optic nerve hypoplasia. Am J Ophthalmol. 1995;120(5):605–612. doi:10.1016/s0002-9394(14)72207-x7485362
   PubMed Web of Science ®Google Scholar
• Lenhart P, Desai N, Bruce B, Hutchinson A, Lambert S. The role of magnetic resonance imaging in diagnosing optic nerve hypoplasia. J Am Assoc Pediatr Ophthalmol Strabismus. 2013;17(1):e21. doi:10.1016/j.jaapos.2012.12.074
   Google Scholar
• Signorini S, Decio A, Fedeli C, et al. Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective. Dev Med Child Neurol. 2012;54(11):1018–1024. doi:10.1111/j.1469-8749.2012.04404.x22924461
   PubMed Web of Science ®Google Scholar
• Katagiri S, Nishina S, Yokoi T, et al. Retinal structure and function in eyes with optic nerve hypoplasia. Sci Rep. 2017;7(1). doi:10.1038/srep42480
   Web of Science ®Google Scholar
• McCulloch D, Garcia-Filion P, Fink C, Chaplin C, Borchert M. Clinical electrophysiology and visual outcome in optic nerve hypoplasia. Br J Ophthalmol. 2009;94(8):1017–1023. doi:10.1136/bjo.2009.16111719955198
   PubMed Web of Science ®Google Scholar
• Coupland SG, Sarnat HB. Visual and auditory evoked potential correlates of cerebral malformations. Brain Dev. 1990;12(5):466–472. doi:10.1016/s0387-7604(12)80209-92288376
   PubMed Web of Science ®Google Scholar
• Ganau M, Talenti G, D’Arco F. Teaching NeuroImages: radiologic features of septo-optic dysplasia plus syndrome. Neurology. 2018;91(23):e2200–e2201. doi:10.1212/wnl.000000000000663130510030
   PubMed Web of Science ®Google Scholar
• Webb E, Dattani M. Septo-optic dysplasia. Eur J Hum Genet. 2009;18(4):393–397. doi:10.1038/ejhg.2009.12519623216
   PubMed Web of Science ®Google Scholar
• Ganau M, Syrmos N, D’arco F, et al. Enhancing contrast agents and radiotracers performance through hyaluronic acid-coating in neuroradiology and nuclear medicine. Hell J Nucl Med. 2017;20(2):166–168. doi:10.1967/s002449910558
   PubMed Web of Science ®Google Scholar
• Secco A, Allegri AE, Di Iorgi N, et al. Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia. Eur J Endocrinol. 2011;165(3):411–420. doi:10.1530/EJE-11-043721750044
   PubMed Web of Science ®Google Scholar
• Parker K, Hunold J, Blethen S. Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS). J Pediatr Endocrinol Metab. 2002;15(Supplement). doi:10.1515/jpem.2002.15.s2.697
   Google Scholar
• Ganau L, Prisco L, Ligarotti G, Ambu R, Ganau M. Understanding the pathological basis of neurological diseases through diagnostic platforms based on innovations in biomedical engineering: new concepts and theranostics perspectives. Medicines. 2018;5(1):22. doi:10.3390/medicines5010022
   Google Scholar
• Poliga G, Olla L, Bellisano G, et al. Solitary extramedullary plasmacytoma of the thyroid gland: a case report and review of literature. Internet J Head Neck Surg. 2007;2(1). doi:10.5580/15ad
   Google Scholar
• Vedin A, Karlsson H, Fink C, Borchert M, Geffner M. Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. Int J Pediatr Endocrinol. 2011;2011(1). doi:10.1186/1687-9856-2011-17
   Google Scholar
• Qian X, Fouzdar Jain S, Morgan LA, Kruse T, Cabrera M, Suh DW. Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol. 2018;102(7):906–910. doi:10.1136/bjophthalmol-2017-31076328982953
   PubMed Web of Science ®Google Scholar
• Jutley-Neilson J, Harris G, Kirk J. The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. Res Dev Disabil. 2013;34(12):4310–4318. doi:10.1016/j.ridd.2013.09.00424210356
   PubMed Web of Science ®Google Scholar
• Parr J, Dale N, Shaffer L, Salt A. Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. Dev Med Child Neurol. 2010;52(10):917–921. doi:10.1111/j.1469-8749.2010.0366420370811
   PubMed Web of Science ®Google Scholar
• Sonksen P, Dale N. Visual impairment in infancy: impact on neurodevelopmental and neurobiological processes. Dev Med Child Neurol. 2007;44(11):782–791. doi:10.1111/j.1469-8749.2002.tb00287.x
   Google Scholar