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SEPTOOPTIC DYSPLASIA, MILD

MedGen UID:
865198
•Concept ID:
C4016761
•
Finding
OMIM®: 601802

Professional guidelines

PubMed

Differential diagnosis in fetuses with absent septum pellucidum.
Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie T
Ultrasound Obstet Gynecol 2005 Jan;25(1):42-9. doi: 10.1002/uog.1787. PMID: 15593321

Recent clinical studies

Etiology

Visual Acuity Outcomes in Children With Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia.
Salman MS, Hossain S, Carson E, Ruth CA, Clark IH
Pediatr Neurol 2023 Dec;149:167-175. Epub 2023 Sep 29 doi: 10.1016/j.pediatrneurol.2023.09.018. PMID: 38557645
A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Gazdagh G, Mawby R, Self JE, Baralle D; Deciphering Developmental Disorders Study
Am J Med Genet A 2022 Mar;188(3):900-906. Epub 2021 Nov 17 doi: 10.1002/ajmg.a.62569. PMID: 34787370
Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.
Alt C, Shevell MI, Poulin C, Rosenblatt B, Saint-Martin C, Srour M
J Child Neurol 2017 Aug;32(9):797-803. Epub 2017 May 8 doi: 10.1177/0883073817707300. PMID: 28482731
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia.
Pilat A, Sibley D, McLean RJ, Proudlock FA, Gottlob I
Ophthalmology 2015 Jul;122(7):1330-9. Epub 2015 May 1 doi: 10.1016/j.ophtha.2015.03.020. PMID: 25939636Free PMC Article
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404

Diagnosis

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Gazdagh G, Mawby R, Self JE, Baralle D; Deciphering Developmental Disorders Study
Am J Med Genet A 2022 Mar;188(3):900-906. Epub 2021 Nov 17 doi: 10.1002/ajmg.a.62569. PMID: 34787370
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.
Hahn JS, Barnes PD
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):120-32. doi: 10.1002/ajmg.c.30238. PMID: 20104607
Septo-optic dysplasia: a literature review.
Campbell CL
Optometry 2003 Jul;74(7):417-26. PMID: 12877274
Holoprosencephaly and septo-optic dysplasia.
Fitz CR
Neuroimaging Clin N Am 1994 May;4(2):263-81. PMID: 8081628

Therapy

Auxological, ophthalmological, neurological and MRI findings in 25 Austrian patients with septo-optic dysplasia (SOD). Preliminary data.
Riedl SW, Müllner-Eidenböck A, Prayer D, Bernert G, Frisch H
Horm Res 2002;58 Suppl 3:16-9. doi: 10.1159/000066484. PMID: 12435890
Septo-optic dysplasia as a manifestation of valproic acid embryopathy.
McMahon CL, Braddock SR
Teratology 2001 Aug;64(2):83-6. doi: 10.1002/tera.1049. PMID: 11460259

Prognosis

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Does asymptomatic septal agenesis exist? A review of 34 cases.
Belhocine O, André C, Kalifa G, Adamsbaum C
Pediatr Radiol 2005 Apr;35(4):410-8. Epub 2005 Feb 15 doi: 10.1007/s00247-004-1378-2. PMID: 15711998
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K
J Clin Endocrinol Metab 2003 Jan;88(1):45-50. doi: 10.1210/jc.2002-020818. PMID: 12519827

Clinical prediction guides

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Gazdagh G, Mawby R, Self JE, Baralle D; Deciphering Developmental Disorders Study
Am J Med Genet A 2022 Mar;188(3):900-906. Epub 2021 Nov 17 doi: 10.1002/ajmg.a.62569. PMID: 34787370
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia.
Pilat A, Sibley D, McLean RJ, Proudlock FA, Gottlob I
Ophthalmology 2015 Jul;122(7):1330-9. Epub 2015 May 1 doi: 10.1016/j.ophtha.2015.03.020. PMID: 25939636Free PMC Article
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Differential diagnosis in fetuses with absent septum pellucidum.
Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie T
Ultrasound Obstet Gynecol 2005 Jan;25(1):42-9. doi: 10.1002/uog.1787. PMID: 15593321
A case of septo-optic dysplasia.
Fukushima N, Konno M, Sato T, Nohara Y, Matsuura N
Tohoku J Exp Med 1978 Oct;126(2):193-7. doi: 10.1620/tjem.126.193. PMID: 102048

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