Septo-Optic Dysplasia

A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.

Also Known As:

Networked: 74 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hypopituitarism (Sheehan's Syndrome)
2.	Malformations of Cortical Development
3.	Lissencephaly
4.	Holoprosencephaly (Arhinencephaly)
5.	Encephalocele (Encephalocele, Frontal)

Experts

1.	Dattani, Mehul T: 8 articles (12/2015 - 12/2003)
2.	Kelberman, Daniel: 4 articles (12/2009 - 01/2007)
3.	Gregory, Louise C: 2 articles (12/2015 - 04/2012)
4.	McCabe, Mark J: 2 articles (12/2015 - 04/2012)
5.	Alatzoglou, Kyriaki S: 2 articles (12/2015 - 02/2011)
6.	Gaston-Massuet, Carles: 2 articles (12/2015 - 11/2008)
7.	Padidela, Raja: 2 articles (04/2012 - 11/2010)
8.	Geffner, Mitchell E: 2 articles (01/2011 - 05/2002)
9.	Dattani, M T: 2 articles (10/2010 - 08/2003)
10.	Krude, Heiko: 2 articles (02/2007 - 03/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Septo-Optic Dysplasia:

1.	HormonesIBA 01/01/2010 - "The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). " 01/01/2011 - "There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia. " 06/01/2010 - "Fifty-seven percent of children had septo-optic dysplasia, and 98% had multiple pituitary hormone deficiencies. " 01/01/2010 - "Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency." 02/01/2005 - "Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia."
2.	Growth Hormone (Somatotropin)IBA 05/01/2002 - "We analyzed data from 65 children with septo-optic dysplasia (SOD) referred for evaluation and followed in the National Cooperative Growth Study (NCGS) Substudy 8 and from 758 children treated with growth hormone (GH) and followed in the NCGS core study. " 01/01/2014 - "Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia." 01/01/2011 - "Optic nerve hypoplasia (ONH) with/or without septo-optic dysplasia (SOD) is a known concomitant of congenital growth hormone deficiency (CGHD). " 01/01/2011 - "Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia." 06/01/2010 - "Severe hypernatraemia associated with growth hormone replacement therapy in a patient with septo-optic dysplasia."
3.	MelatoninIBA 10/01/2010 - "A trial of melatonin treatment in children with septo-optic dysplasia (SOD) and sleep disruption is accepted clinical practice in many centers. " 10/01/2010 - "Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles." 09/01/2001 - "Arrhythmicity in a child with septo-optic dysplasia and establishment of sleep-wake cyclicity with melatonin."
4.	Transcription Factors (Transcription Factor)IBA 02/01/2011 - "Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond." 02/01/2007 - "Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis. " 06/01/2011 - "There is a wide variety of phenotypes depending on the transcription factor involved: PROP1 (somatolactotroph, thyrotroph, gonadotroph, and sometimes corticotroph deficiencies ; pituitary hyper- or hypoplasia), POU1F1 (somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph, thyrotroph, and gonadotroph deficiencies, deafness, and limited head and neck rotation), LHX4 (variable pituitary deficiencies, ectopic neurohypophysis, cerebral abnormalities), and OTX2 (variable pituitary deficiencies, ectopic neurohypophysis, ocular abnormalities). " 05/01/2002 - "Causes of congenital hypopituitarism include septo-optic dysplasia, other midline syndromes, and mutations of transcription factors involved in pituitary gland development. " 01/01/2007 - "Mutations in the genes encoding pituitary transcription factors (mainly PROP1, POUF1 and HESX1) are responsible for familial combined pituitary hormone deficiency (CPHD) and septo-optic dysplasia (SOD) while only a low percentage of mutations are the cause of sporadic forms. "
5.	Absence of septum pellucidumIBA 03/01/2015 - "Septo-optic dysplasia complex (SODC) is a rare congenital anomaly, characterized with absence of septum pellucidum, optic nerve hypoplasia with or without pituitary dysfunction. " 09/01/2013 - "Septo-optic dysplasia (SOD), also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. " 01/01/2012 - "Septo-optic dysplasia (SOD) is an extremely rare congenital anomaly, characterized with optic nerve hypoplasia and absence of septum pellucidum and/or pituitary dysfunction. " 03/01/1989 - "A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three months. " 03/01/2014 - "It can be associated with septo-optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pachygyria, polymicrogyria, heterotopia and arachnoid cysts. "
6.	Adrenocorticotropic Hormone (ACTH)FDA Link 07/01/2001 - "Delaying puberty is an option in septo-optic dysplasia, and minimising the dose of hydrocortisone is crucial in treating ACTH/cortisol insufficiency. " 11/01/1990 - "Hypothalamic pituitary function and growth hormone releasing hormone (GHRH) loading tests in two children with septo-optic dysplasia (SOD) revealed isolated GH deficiency in one and deficiencies of growth hormone, adrenocorticotropic hormone and antidiuretic hormone in the other. " 01/01/2013 - "Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). " 07/01/1979 - "Two girls, one with septo-optic dysplasia and the other with posttraumatic brain damage, had the unusual combination of human growth hormone, thyrotropin, adrenocorticotrophic hormone, and vasopressin deficiencies that were associated with sexual precocity in one patient and early sexual maturation in the second patient, and of adult follicle-stimulating hormone and luteinizing hormone concentrations. "
7.	Retinaldehyde (Retinal)IBA 11/01/2011 - "Peripheral retinal nonperfusion in septo-optic dysplasia." 05/01/2011 - "Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome)." 07/01/1980 - "The first child had a large basal encephalocele, agenesis of the corpus callosum, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had Rieger's anomaly. "
8.	Pituitary HormonesIBA 09/01/2010 - "Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. " 04/01/2009 - "On example of three patients with septo-optic dysplasia the authors present a rare clinical entity involving combined disturbances of endocrine and neurologic systems and variable expressed clinical triad: 1) pituitary aplasia/dysplasia with pituitary hormones deficiency, 2) developmental disturbance of the middle-brain structures (corpus callosum and septum pellucidum), and 3) dysplastic changes of the optic nerve. " 06/01/1999 - "Mutations of any of the first three genes produce complex disease phenotypes such as septo-optic dysplasia, Treacher Collins Franceschetti syndrome or Rieger syndrome that may include deficiency of one or more pituitary hormones. "
9.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/01/2013 - "Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). " 07/01/1979 - "Two girls, one with septo-optic dysplasia and the other with posttraumatic brain damage, had the unusual combination of human growth hormone, thyrotropin, adrenocorticotrophic hormone, and vasopressin deficiencies that were associated with sexual precocity in one patient and early sexual maturation in the second patient, and of adult follicle-stimulating hormone and luteinizing hormone concentrations. "
10.	Growth Hormone-Releasing Hormone (Somatotropin Releasing Hormone)IBA 09/01/1985 - "This is the first reported case of a patient with septo-optic dysplasia who underwent corticotropin-releasing factor and growth hormone-releasing hormone stimulation." 11/01/1990 - "Hypothalamic pituitary function and growth hormone releasing hormone (GHRH) loading tests in two children with septo-optic dysplasia (SOD) revealed isolated GH deficiency in one and deficiencies of growth hormone, adrenocorticotropic hormone and antidiuretic hormone in the other. "

Therapies and Procedures

1.	Cesarean Section (Caesarean Section) 06/01/2007 - "We report a case of ovarian stimulation in a woman with a Kallmann-De Morsier syndrome, which resulted in a triple pregnancy and childbirth by caesarean section at 36 weeks of amenorrhea of three girls weighing from 1,950 to 2,300 g. "
2.	Anesthesia 10/01/2009 - "To our knowledge, congenital corneal anesthesia has not been reported in association with septo-optic dysplasia. " 10/01/2009 - "Septo-optic dysplasia with bilateral congenital corneal anesthesia."