Research & Literature

Septo-Optic Dysplasia: A Case Study.

Musgrove JM, Riley C

Neonatal network : NN 2016; (35(1)):13-8 doi:10.1891/0730-0832.35.1.13.

Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils.

Jabeen M, Hairfield A, Swischuk LE, Jain SK

AJP reports 2016; (6(1)):e112-4 doi:10.1055/s-0036-1571330.

Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin.

Garvin J, Sampath V, Karody VR

AJP reports 2016; (6(1)):e15-7 doi:10.1055/s-0035-1563720.

Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report.

Ulloa-Padilla JP, Izquierdo NJ, Oliver A

Journal of glaucoma 2016; (25(7)):e713-7 doi:10.1097/IJG.0000000000000391.

Septo-optic dysplasia.

Kumar V, Karunakaran A, Valakada J

International ophthalmology 2018; (38(1)):337-338 doi:10.1007/s10792-016-0437-7.

Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia.

Pozzi S, Tan WH, Martinez-Barbera J

Clinical case reports 2017; (5(4)):463-470 doi:10.1002/ccr3.868.

Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant: A case report.

Chan U, Chan WT, Ting WH, et al.

Medicine 2017; (96(17)):e6757 doi:10.1097/MD.0000000000006757.

Septo-optic dysplasia plus diagnosed in adulthood.

Infante-Valenzuela A, Camara-Lemarroy CR, Reyes-Mondragon AL, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017; (38(9)):1705-1707 doi:10.1007/s10072-017-2985-7.

Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.

Alt C, Shevell MI, Poulin C, et al.

Journal of child neurology 2017; (32(9)):797-803 doi:10.1177/0883073817707300.

[Optic nerve hypoplasia and septo-optic dysplasia].

Lohmüller R, Gangloff AS, Wenzel F, Lagrèze WA

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2017; (114(8)):759-766 doi:10.1007/s00347-017-0535-6.

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.

Nagasaki K, Kubota T, Kobayashi H, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2017; (26(4)):207-213 doi:10.1297/cpe.26.207.

Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course.

AlKhateeb M, McLachlan R, Burneo J, et al.

Epilepsy & behavior case reports 2017; (8()):73-84 doi:10.1016/j.ebcr.2017.04.001.

Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.

Khaper T, Bunge M, Clark I, et al.

Paediatrics & child health 2017; (22(8)):445-453 doi:10.1093/pch/pxx118.

Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts.

Benson JC, Nascene D, Truwit C, McKinney AM

Clinical neuroradiology 2019; (29(3)):505-513 doi:10.1007/s00062-018-0687-z.

The central diabetes insipidus associated with septo-optic dysplasia (de Morsier syndrome).

Hetman M, Fułek M, Zajączkowska K, et al.

Pediatric endocrinology, diabetes, and metabolism 2018; (24(4)):197-203 doi:10.5114/pedm.2018.83367.

Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features.

Freitas JL, Rezende Filho FM, Lucato LT, et al.

Arquivos de neuro-psiquiatria 2019; (77(4)):294-295 doi:10.1590/0004-282X20190039.

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.

Fernández-Marmiesse A, Pérez-Poyato MS, Fontalba A, et al.

BMC medical genetics 2019; (20(1)):112 doi:10.1186/s12881-019-0844-5.

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

Ganau M, Huet S, Syrmos N, et al.

Eye and brain 2019; (11()):37-47 doi:10.2147/EB.S186307.

Septo-optic dysplasia with amniotic band syndrome sequence: a case report.

Amiji IA, Mohamed UH, Rutashobya AG, et al.

Journal of medical case reports 2019; (13(1)):370 doi:10.1186/s13256-019-2306-2.

Pituitary abnormalities in midline brain defects.

Zucchini S

EClinicalMedicine 2020; (19()):100260 doi:10.1016/j.eclinm.2020.100260.

Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders.

Cerbone M, Güemes M, Wade A, et al.

EClinicalMedicine 2020; (19()):100224 doi:10.1016/j.eclinm.2019.11.017.

Management of transient central diabetes insipidus with intravenous desmopressin in a premature infant with gastroschisis and septo-optic dysplasia: A case report.

Kim F, Towers HM

Journal of neonatal-perinatal medicine 2021; (14(2)):293-297 doi:10.3233/NPM-200465.

Review of the MRI brain findings of septo-optic dysplasia.

Ward DJ, Connolly DJA, Griffiths PD

Clinical radiology 2021; (76(2)):160.e1-160.e14 doi:10.1016/j.crad.2020.09.007.

Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging

Nemcsik-Bencze Z, Várbíró S, Rudas G, Nemcsik J

Orvosi hetilap 2020; (161(52)):2195-2200 doi:10.1556/650.2020.31912.

Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil.

Veras Gonçalves A, Miranda-Filho DB, Rocha Vilela LC, et al.

Viruses 2020; (13(1)) doi:10.3390/v13010001.

Septo-optic Dysplasia with Cerebellar Hemiagenesis.

Parry AH, Wani AH

Journal of pediatric neurosciences 2020; (15(3)):328-329 doi:10.4103/jpn.JPN_93_18.

Hypernatremia in an Infant: A Case of Septo-Optic Dysplasia.

Oyadiran OO, Gonzalez N, Khiami A

Cureus 2021; (13(1)):e12450 doi:10.7759/cureus.12450.

Septo-optic dysplasia.

Sataite I, Cudlip S, Jayamohan J, Ganau M

Handbook of clinical neurology 2021; (181()):51-64 doi:10.1016/B978-0-12-820683-6.00005-1.

Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases.

Hernández-Almeida S, Dorado López-Rosado A, Muñoz-Gallego A, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2022; (97(1)):28-33 doi:10.1016/j.oftale.2021.02.003.

Novel Genetic Diagnoses in Septo-Optic Dysplasia.

Reis LM, Seese S, Maheshwari M, et al.

Genes 2022; (13(7)) doi:10.3390/genes13071165.

Patients with septo-optic dysplasia: General ophthalmologic assessment and retinal imaging.

Eibenberger K, Rezar-Dreindl S, Briem J, et al.

European journal of ophthalmology 2023; (33(5)):NP11-NP20 doi:10.1177/11206721221128865.

Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report.

Ham JA, Kim SH, Park D

Journal of Yeungnam medical science 2023; (40(4)):419-422 doi:10.12701/jyms.2022.00493.

Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia.

Salman MS, Hossain S, Carson E, et al.

Neuro-ophthalmology (Aeolus Press) 2022; (46(6)):367-374 doi:10.1080/01658107.2022.2077967.

Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?

Gasco V, Matarazzo P, De Sanctis L, Ghigo E

BMJ case reports 2022; (15(12)) doi:10.1136/bcr-2022-251897.

Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.

Sepulveda W, Sepulveda F, Ranzini AC

Fetal diagnosis and therapy 2023; (50(3)):165-174 doi:10.1159/000530468.

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Pasca L, Politano D, Cavallini A, et al.

Neuropediatrics 2024; (55(3)):191-195 doi:10.1055/a-2114-4387.

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.

Mann A, Aghababaie A, Kalitsi J, et al.

Molecular autism 2023; (14(1)):26 doi:10.1186/s13229-023-00559-0.

Neuroimaging Features in Children with Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia.

Salman MS, Hossain S, Rozovsky K

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2024; (51(3)):416-424 doi:10.1017/cjn.2023.263.

The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report.

Al-Salihi MM, Qassim T, Aji N, et al.

International journal of surgery case reports 2023; (109()):108575 doi:10.1016/j.ijscr.2023.108575.

Visual Acuity Outcomes in Children With Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia.

Salman MS, Hossain S, Carson E, et al.

Pediatric neurology 2023; (149()):167-175 doi:10.1016/j.pediatrneurol.2023.09.018.

Rare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management.

Suwal S, Katwal S, Chataut D, et al.

Radiology case reports 2024; (19(6)):2292-2296 doi:10.1016/j.radcr.2024.02.094.

Co-occurrence of Attention-Deficit/Hyperactivity Disorder and Septo-Optic Dysplasia: A Neurodevelopmental Case Report.

Centner A, Centner S, Ikeda J, et al.

Cureus 2024; (16(5)):e60441 doi:10.7759/cureus.60441.

Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report.

Essetti S, Faraj C, Chait F, et al.

Radiology case reports 2024; (19(9)):3878-3881 doi:10.1016/j.radcr.2024.05.090.

The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.

Phillipi MA, Khaki S, Kim AJH, et al.

American journal of perinatology 2025; (42(12)):1630-1637 doi:10.1055/a-2521-1020.

Septo-optic Dysplasia in a Patient With Increased Socioeconomic Needs: A Case Report.

Mohiuddin A, Taweel A, Taha W, Farrow S

Cureus 2025; (17(2)):e78479 doi:10.7759/cureus.78479.

Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic Dysplasia.

Cullingford DJ, Curran JA, Abraham MB, et al.

Journal of the Endocrine Society 2025; (9(4)):bvaf031 doi:10.1210/jendso/bvaf031.

Unilateral schizencephaly open lip with septo optic dysplasia in adult woman with glaucoma: A rare case.

Aristiady EB, Mahmudah R, Mulyono A

Radiology case reports 2025; (20(6)):2690-2693 doi:10.1016/j.radcr.2025.02.065.

Biological pathways leading to septo-optic dysplasia: a review.

Pasca L, Politano D, Morelli F, et al.

Orphanet journal of rare diseases 2025; (20(1)):157 doi:10.1186/s13023-025-03541-6.

Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal age.

Cullingford DJ, Abraham MB, Siafarikas A, et al.

European journal of pediatrics 2025; (184(5)):297 doi:10.1007/s00431-025-06118-4.

Undiagnosed complex neurological malformation in a geriatric patient presenting with seizures.

Desale P, Dhande R, Parihar P, et al.

Radiology case reports 2025; (20(6)):3037-3040 doi:10.1016/j.radcr.2025.02.105.

Hypopituitarism and Other Endocrinopathies as a Consequence of Septo-Optic Dysplasia.

Swami A, Sharma M, VanDyke L

Cureus 2025; (17(4)):e82329 doi:10.7759/cureus.82329.

Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.

Shields LBE, Shahi S, McCarty G, et al.

Pediatric neurology 2025; (170()):98-105 doi:10.1016/j.pediatrneurol.2025.06.019.

Sleep Disturbances in Children With Septo-Optic Dysplasia: A Retrospective Cohort Study.

McCarty G, Iyer M, Danieli H, et al.

Pediatric neurology 2025; (172()):111-117 doi:10.1016/j.pediatrneurol.2025.08.013.

Educational and Social Outcomes in Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia.

Salman MS, Ruth CA, Walld R, et al.

Pediatric neurology 2026; (176()):77-85 doi:10.1016/j.pediatrneurol.2025.12.019.

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo-Optic Dysplasia in a Small-for-Gestational-Age Infant-A Case Report.

Tan YRL, Dong X, Lek N, et al.

Clinical case reports 2026; (14(2)):e71985 doi:10.1002/ccr3.71985.