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160 Possible Causes for Optic Nerve Hypoplasia or Agenesis

  • Septo-Optic Dysplasia

    We have previously shown that familial septo-optic dysplasia (SOD), a syndromic form of congenital hypopituitarism involving optic nerve hypoplasia and agenesis of midline[ncbi.nlm.nih.gov] […] septo-optic dysplasia (SOD) is the triad of optic nerve hypoplasia, panhypopituitarism, and agenesis of septum pellucidum, and has been described previously to be associated[ncbi.nlm.nih.gov] Abstract Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning[ncbi.nlm.nih.gov]

  • Isolated optic nerve hypoplasia

    David Reeves at CHLA first described the association of optic nerve hypoplasia with agenesis of septum pellucidum.[eyewiki.aao.org] Findings: (1) bilateral optic nerve hypoplasia (2) partial or complete agenesis of the septum pellucidum (3) variable defect in the pituitary (4) variable defect in other[meducator3.net] Dysplasia (SOD) is a heterogeneous condition defined by any combination of i) optic nerve hypoplasia, ii) hypopituitarism, and iii) midline brain anomalies such as agenesis[omicsonline.org]

  • Haddad Syndrome

    David Reeves at CHLA first described the association of optic nerve hypoplasia with agenesis of septum pellucidum.[eyewiki.aao.org] Septo – Optic dysplasia (de Morsier syndrome) is used to describe the association between optic nerve hypoplasia and the absence of septum pellucidum and agenesis of corpus[eyewiki.aao.org] Hoyt attributed the discovery of the association of optic nerve hypoplasia with septum pellucidum agenesis to de Morsier, and resurrected the term of septo-optic dysplasia[eyewiki.aao.org]

  • Central Precocious Puberty

    Dysplasia (SOD) is a heterogeneous condition defined by any combination of i) optic nerve hypoplasia, ii) hypopituitarism, and iii) midline brain anomalies such as agenesis[omicsonline.org] As our patient showed optic nerve hypoplasia and pituitary dysfunction, a diagnosis of SOD was settled.[omicsonline.org] We encountered a Japanese girl with optic nerve hypoplasia, growth failure, precocious puberty, and mild developmental delay.[omicsonline.org]

  • Primary Immune Deficiency Disorder

    Isolated neck extensor myopathy Isolated neonatal sclerosing cholangitis Isolated nose agenesis Isolated optic nerve hypoplasia/aplasia Isolated optic neuritis Isolated osteopoikilosis[orpha.net] Isolated oxidative phosphorylation complex disorder Isolated oxycephaly Isolated partial cerebellar vermis agenesis Isolated partial vaginal agenesis Isolated Pierre Robin[orpha.net] NADH-coenzyme Q reductase deficiency Isolated NADH-CoQ reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated nail anomaly Isolated nasal pyriform aperture hypoplasia[orpha.net]

  • Congenital Hepatic Fibrosis

    Brain magnetic resonance imaging revealed agenesis of the septum pellucidum, optic nerve hypoplasia, pituitary gland stalk hypoplasia, and absence of the posterior pituitary[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]

  • Isolated Congenital Sclerocornea

    […] of the right ACA, supraumbilical raphe, optic nerve hypoplasia Large left and right frontotemporal segmental facial hemangiomas, parotidalhemangioma, ventricular septal defect[raredisorders.imedpub.com] It can be associated with coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay[bredagenetics.com] , right aortic arch, agenesis of vertebral and basilar arteries, hypoplasia of the right ICA, agenesis of the right ACA and PCA, aberrant origin of the left ACA and PCA, sclerocornea[raredisorders.imedpub.com]

  • Pituitary Dwarfism

    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] hypoplasia agenesis of the corpus callosum persistent craniopharyngeal canal Kallmann syndrome basilar impression medial deviation of the carotid arteries microcephaly [radiopaedia.org]

  • Kasabach Merritt Syndrome

    "Morning-glory" disc Exophthalmus Peripapillary staphyloma Congenital third nerve palsy Optic nerve hypoplasia Horner syndrome Anterior segment abnormalities Other associated[chw.org] […] anomalies Ventral developmental Miscellaneous Partial or complete agenesis of sternum Pituitary insufficiency Sternal cleft or pit Micrognathia Sternal papule Aruricular[chw.org] Posterior segment abnormalities Microphthalmos Retinal vascular abnormality Congenital cataracts Persistent fetal retinal vessels Sclerocornea Iris vessel hypertrophy Iris hypoplasia[chw.org]

  • Esotropia

    nerve hypoplasia Abnormality of mitochondrial metabolism Aqueductal stenosis Partial agenesis of the corpus callosum Low-set ears Nonketotic hyperglycinemia Gait disturbance[mendelian.co] Progressive peripheral neuropathy Aciduria Increased serum lactate Restrictive deficit on pulmonary function testing Demyelinating peripheral neuropathy Absence seizures Optic[mendelian.co]

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