Optic Dysplasia: Causes & Reasons

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Possible Causes for Optic Dysplasia

Mitochondrial DNA Depletion Syndrome Type 3 Hepatocerebral

Clinical Characteristics Ocular Features: Nystagmus, disconjugate eye movements, and "optic dysplasia" have been noted. [disorders.eyes.arizona.edu]

All patients showed variable encephalopathic signs including nystagmus, cerebral atrophy, microcephaly, hypotonia, and in 1 patient, optic dysplasia. [genome.jp]

dysplasia ABDOMEN: [External features]; Ascites; Portal hypertension; [Liver]; Hepatomegaly; Abnormal liver function tests; Liver tissue shows 80 to 99% depletion of mitochondrial [genome.jp]

Isolated optic nerve hypoplasia

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterized by optic nerve hypoplasia and absence of septum pellucidum and, in two-thirds [radiopaedia.org]

If the pituitary is involved then it may be termed septo-optic-pituitary dysplasia. [meducator3.net]

Synonyms: de Morsier's syndrome, pituitary hormone deficiency combined HESX1-related Septo-optic dysplasia (SOD) is a rare, heterogeneous condition characterised by a combination [patient.info]

Frontonasal Dysplasia

This is known to be associated with midline problems as in de Morsier’s syndrome of septo-optic dysplasia. [bjo.bmj.com]

To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. [ncbi.nlm.nih.gov]

Statistics from Altmetric.com frontonasal dysplasia optic disc encephalocele Frontonasal dysplasia was a term suggested by Sedano et al 1 in 1970 to describe a group of patients [bjo.bmj.com]

Optic Disc Coloboma

dysplasia • Tilted optic disc • Optic disc drusen • Optic disc pit • Myelinated nerve fibres Page 2 CONGENITAL OPTIC NERVE ANOMALIES 1. [edurev.in]

optic nerve dysplasia. [dusunenadamdergisi.org]

With systemic associations Optic disc coloboma Morning glory anomaly Optic nerve hypoplasia Aicardi syndrome Megalopapilla Peripapillary staphyloma Optic disc dysplasia 2 [powershow.com]

Septo-Optic Dysplasia

Septo-optic dysplasia is a highly variable disorder. It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum. [en.wikipedia.org]

Septo-optic dysplasia is a disorder of early brain development. [ghr.nlm.nih.gov]

[…] brain defects that has material basis in mutation in the HESX1 gene on chromosome 3p14 septooptic dysplasia septo-optic dysplasia De Morsier syndrome SOD edit English Septo-optic [wikidata.org]

Anophthalmia - Microphthalmia Syndrome

Keywords: Anophthalmia, computed tomography, septo-optic dysplasia How to cite this article: Jana M, Sharma S. Bilateral anophthalmia with septo-optic dysplasia. [ojoonline.org]

dysplasia. [blueprintgenetics.com]

DYSPLASIA (DE MORSIER SYNDROME) Optic nerve hypoplasia, nystagmus AD, AR, sporadic HESX1, OTX2, SOX2 #182230 SHASHI X-LINKED MENTAL RETARDATION SYNDROME (MENTAL RETARDATION [eyewiki.aao.org]

Congenital Cerebral Cyst

Additionally, there is blindness if the condition is associated with septo-optic dysplasia. Recurrence: No increased risk of recurrence. [fetalmedicine.org]

Hypoplasia of the optic nerves and midline brain abnormality (agenesis of the septum pellucidum) may also be present ('septo-optic dysplasia plus'). [epilepsydiagnosis.org]

It is frequently associated (50-90%) 6 with other cerebral anomalies: septo-optic dysplasia grey matter heterotopia absent septum pellucidum Ultrasound Increasingly, schizencephaly [radiopaedia.org]

Pituitary Dwarfism

Abstract The cause of a seventeen-year-old female patient with septo-optic dysplasia and pituitary dwarfism is presented. [ncbi.nlm.nih.gov]

An ectopic posterior pituitary lobe can also be seen in cases of pituitary stalk transection and septo-optic dysplasia and as an asymptomatic variant. [roentgenrayreader.blogspot.com]

Additional features referable any one of numerous associated malformations may also be identified, including 1,3 : central nervous system septo-optic dysplasia optic nerve [radiopaedia.org]

Fibrous Dysplasia

BACKGROUND: Fibrous dysplasia (FD) of the skull base can manifest with optic nerve compression. [ncbi.nlm.nih.gov]

CONCLUSIONS: Therapeutic optic nerve unroofing is advocated in fibrous dysplasia patients with continuous deterioration of vision. [ncbi.nlm.nih.gov]

Optic nerve decompression in cranial base fibrous dysplasia. J Craniofac Surg 6 : 5 – 14, 1995. 12. [doi.org]

Aqueduct of Sylvius Anomaly

Isolated agenesis of the septum pellucidum may be a normal variant, although it may be the only antenatal finding of septo-optic dysplasia, a condtiion that is usually associated [obgyn.mhmedical.com]

dysplasia of brain Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. [icd10data.com]

dysplasia of brain Major Diagnostic Categories M.D.C MDC Category : 01|15| MDC Type : Medical Description : Diseases and Disorders of the Nervous System|Newborn And Other [codelay.com]

Renal Coloboma Syndrome

We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. [ncbi.nlm.nih.gov]

In all affected individuals, signs of optic disk dysplasia were detected, but most patients were asymptomatic. [ncbi.nlm.nih.gov]

An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. [en.wikipedia.org]

Congenital Anomaly of the Retina

Results: A female preterm neonate was found to have septo-optic dysplasia, with optic nerve hypoplasia, tripartite splitting of the vessels at the optic nerve, an ectopic [experts.umn.edu]

Suggested resource: http://www.tsbvi.edu/curriculum-a-publications/1093-scotoma Septo-Optic Dysplasia (SOD) See De Morsier's Syndrome. [afb.org]

Optic nerve dysplasia resembling optic pits or the morning glory disc anomaly is a feature of the papillorenal syndrome ( 120330 ) but this condition is caused by mutations [disorders.eyes.arizona.edu]

Marshall-Smith Syndrome

We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia. [ncbi.nlm.nih.gov]

dysplasia: an unreported association. ( 18627063 ) Travan L....Demarini S. 2008 16 Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. ( 16531739 [malacards.org]

A condition caused by underdevelopment of the optic nerves and structures along the midline of the brain ( septo-optic dysplasia ) may also occur. [rarediseases.info.nih.gov]

Chiasmal Syndrome

[…] septum pellucidum hypoplastic pituitary stalk hypoplastic optic chiasm/optic nerves and globes Treatment and prognosis The management of septo-optic dysplasia requires a [radiopaedia.org]

Septo -Optic Dysplasia ( De Morsier Syndrome) Ultrasound Absent cavum septum pellucidum Hypoplastic optic nerves (visual impairment and dysfunction of the pituitary- hypothalamic [fetalultrasound.com]

Hypothesis: septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet 1997; 69:235. 27. Brodsky MC, Glasier CM. Optic nerve hypoplasia. [medtextfree.wordpress.com]

Warburg Micro Syndrome 3

dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. [malacards.org]

OMIM : 57 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical [malacards.org]

Definition A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum [uniprot.org]

Drug-Induced Pituitary Deficiency

Genetic causes - eg, PIT1, PROP1 gene mutations, septo-optic dysplasia. Idiopathic causes. [patient.info]

optic dysplasia ii) Prader- willi syndrome iii) Kallmann syndrome iv) Laurence-moon-beidl syndrome 2. [slideshare.net]

dysplasia ) 182230 HESX1 Kallmann syndrome causes deficiency of the gonadotropins only. [en.wikipedia.org]

Aprosencephaly and Cerebellar Dysgenesis

Other conditions included in the spectrum are the middle interhemispheric variant (Syntelencephaly) and septo-optic dysplasia.(2) The spectrum starts with aprosencephaly [neuroradiologysilan.com]

Dysplasia Chapter 30: Syntelencephaly Chapter 31: Schizencephaly Chapter 32: Lissencephaly Chapter 33: Gray Matter Heterotopia Chapter 34: Pachygyria, Polymicrogyria Chapter [inkling.com]

Leech and Shuman (10) suggested that aprosencephaly, holoprosencephaly, septo-optic dysplasia, and agenesis of the corpus callosum constitute a spectrum of anomalies caused [ajnr.org]

Vitreoretinochoroidopathy

Optic nerve dysplasia and iris dysgenesis are novel observations that extend the ocular phenotype of ADVIRC. [ncbi.nlm.nih.gov]

Bilateral optic nerve dysplasia was noted in one (case IV2; Figure 2b ). [nature.com]

[…] nerve dysplasia (n = 1). [ncbi.nlm.nih.gov]

Arhinencephaly

Similars Q04.0 - Congenital malformations of corpus callosum Q04.1 - Arhinencephaly Q04.2 - Holoprosencephaly Q04.3 - Other reduction deformities of brain Q04.4 - Septo-optic [icd-code.org]

Other congenital malformations of brain Q04.0 Congenital malformations of corpus callosum Q04.2 Holoprosencephaly Q04.3 Other reduction deformities of brain Q04.4 Septo-optic [healthprovidersdata.com]

dysplasia Septo-optic dysplasia sequence Applies To Absence of part of brain Agenesis of part of brain Agyria Aplasia of part of brain Arhinencephaly Holoprosencephaly Hypoplasia [icd9data.com]

Neonatal Adrenoleukodystrophy

Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts. [orpha.net]

Microphthalmos

This case represents the rare association of septo-optic dysplasia with complex microphthalmos. [ncbi.nlm.nih.gov]

dysplasia sequence HMGB3 Microphthalmia, syndromic 13 LTBP2 Microspherophakia MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome MFRP Microphthalmia, isolated [asperbio.com]

Septo-optic (sept-optic dysplasia). SOX2 anophthalmia syndrome (SOX2 anophthalmia syndrome). [ivami.com]

Pseudo-Zellweger Syndrome

Chromosome 3 Protein S deficiency Pseudo-Zellweger syndrome Retinitis pigmentosa Romano–Ward syndrome Seckel syndrome Sensenbrenner syndrome Septo-optic dysplasia List of [wikiwand.com]

dysplasia Spinocerebellar ataxia Osteoarthritis T-cell leukemia translocation altered gene Blepharophimosis, epicanthus inversus, and ptosis Blepharophimosis, epicanthus [news-medical.net]

[…] cataract Propionic acidemia Protein S deficiency Pseudo-Zellweger syndrome Pyruvate dehydrogenase E1-beta deficiency Resistance to thyroid hormone Romano-Ward syndrome Septo-optic [news-medical.net]

Congenital Hepatic Fibrosis

Although there is an association between septo-optic dysplasia and neonatal cholestasis, believed to be related to hypopituitarism, this case of septo-optic dysplasia with [ncbi.nlm.nih.gov]

Thus, this case was regarded as septo-optic dysplasia. No mutation was evident in the coding and boundary regions of the homeobox gene HESX1. [ncbi.nlm.nih.gov]

This article reports a 7-year-old female with septo-optic dysplasia and congenital hepatic fibrosis. She manifested nystagmus and severe hepatosplenomegaly. [ncbi.nlm.nih.gov]

Hypopituitarism

[…] septo-optic dysplasia. [ncbi.nlm.nih.gov]

dysplasia spectrum The documents contained in this web site are presented for information purposes only. [orpha.net]

Kaplowitz-Bodurtha syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: - UMLS: C2931361 MeSH: - GARD: - MedDRA: - Summary This disease has been moved to Septo-optic [orpha.net]

Panhypopituitarism

OBJECTIVE: There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia [ncbi.nlm.nih.gov]

dysplasia (de Morsier syndrome) Holoprosencephaly There's more to see -- the rest of this entry is available only to subscribers. [unboundmedicine.com]

Bergson et al also suggested that it might be a complex form of a septo-optic dysplasia. [ajnr.org]

Pituitary Disorder

Dysplasia (National Institute of Neurological Disorders and Stroke) Genetics Genetics Home Reference: combined pituitary hormone deficiency (National Library of Medicine) [medlineplus.gov]

Galactorrhea (American Academy of Family Physicians) Also in Spanish Hyperprolactinemia (Hormone Health Network) Also in Spanish Hypopituitarism (Hormone Health Network) Septo-Optic [medlineplus.gov]

Cerebro-Facio-Thoracic Dysplasia

Home Documents Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: Nosology of dysosteosclerosis Published on 05-Jun [documents.tips]

Miscellaneous Sequences Laterality Sequences Holoprosencephaly Sequence Meningomyelocele, Anencephaly, Iniencephaly Sequences Occult Spinal Dysraphism Sequence Septo-Optic [bookdepository.com]

dysplasia (SOD, de Morsier syndrome) Severe Combined Immunodeficiency (SCID) Sex Chromosome Aneuploidies Short Stature and Skeletal Dysplasia Shprintzen Syndrome (Velo Facial [geneticalliance.org.au]

Autosomal Recessive Isolated Optic Atrophy

Septo-optic dysplasia, also known as de Morsier syndrome, is one of the more common bilateral optic nerve hypoplasia syndromes. [mhmedical.com]

dysplasia, and cerebral visual impairment. [bcm.edu]

Genetics of septo-optic dysplasia. Pituitary 2007;10:393-407. 16. Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet 2010;18:393-7. 17. [ijri.org]

Growth Hormone Deficiency

Congenital Genetic (see “Genetics”) Structural brain defects Agenesis of corpus callosum Septo-optic dysplasia Empty sella syndrome Encephalocele Hydrocephalus Arachnoid cyst [unboundmedicine.com]

We know that growth hormone deficiency is not inherited and that it can be present at birth or develop later in childhood alongside other conditions, such as septo-optic dysplasia [gosh.nhs.uk]

• SOD (septo-optic dysplasia) • Cleft lip & Palate • Empty sella syndrome • Horencephaly and anencephaly • Pituitary hypoplasia & aplasia • Thin or absent pituitary stalk [slideshare.net]

Syndromic Microphthalmia Type 10

Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituary dysfunction. [malacards.org]

dysplasia, skeletal dysplasia, Society of Radiologists in Ultrasound, SRU, thick slice 3D display, Treacher Collins syndrome, unilateral cleft palate, vermian hypoplasia, [sonoworld.com]

[…] vesicle in the optic cup. [medical-dictionary.thefreedictionary.com]