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1,985 Possible Causes for Autosomal Dominant, Optic Neuropathy

  • Autosomal Dominant Optic Atrophy

    Introduction Hereditary optic neuropathies are a heterogeneous group of diseases, which may be either an isolated optic neuropathy or optic neuropathy in the context of a[doi.org] dominant optic atrophy plus syndrome (ADOA plus) is inherited in an autosomal dominant manner. [1] This means that people with ADOA plus have a disease-causing change in[rarediseases.info.nih.gov] Hereditary optic neuropathies: from the mitochondria to the optic nerve.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy and Cataract

    […] are the two most common inherited optic neuropathies.[link.springer.com] ORPHA:67036 Synonym(s): Autosomal dominant optic atrophy type 3 OPA3, autosomal dominant Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: H47.2[orpha.net] Orpha Number: 67036 Disease definition Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized[rarediseases.info.nih.gov]

  • Optic Atrophy

    Leber's Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) Therapeutics under Development by Companies Leber's Hereditary Optic Neuropathy (LHON) (Leber optic atrophy[businesswire.com] […] ethnology Optic Atrophy, Autosomal Dominant/genetics* Optic Atrophy, Autosomal Dominant/metabolism Optic Atrophy, Autosomal Dominant/pathology Optic Nerve/metabolism* Optic[ncbi.nlm.nih.gov] (recessive) In complicated cases of Autosomal Dominant Optic Atrophy, in addition to bilateral optic neuropathy, several other neurological signs of neurological involvement[umdf.org]

  • Autosomal Recessive Isolated Optic Atrophy

    neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live.[panelapp.genomicsengland.co.uk] dominant optic atrophy ADOAC, autosomal dominant optic atrophy and cataract AROA, autosomal recessive optic atrophy LHON, Leber’s hereditary optic neuropathy MGA, 3-methylglutaconic[jmg.bmj.com] Vascular optic neuropathy: Vascular forms of ON include arteritic (autoimmune disease) and non-arteritic anterior ischemic optic neuropathy (AION).[neuroweb.us]

  • Hereditary Optic Atrophy

    Neuropathy (LHON) (Leber optic atrophy) therapeutics and enlists all their major and minor projects The report assesses Leber's Hereditary Optic Neuropathy (LHON) (Leber[businesswire.com] シソーラス検索結果 同義語(異表記): Autosomal Dominant Hereditary Optic Atrophy Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy Kjer Type Dominant Optic Atrophy Juvenile[lsd-project.jp] Relatively common forms include autosomal dominant optic atrophy ( OPTIC ATROPHY, AUTOSOMAL DOMINANT ) and Leber hereditary optic atrophy ( OPTIC ATROPHY, HEREDITARY, LEBER[hon.ch]

  • Autosomal Recessive Osteopetrosis Type 7

    dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.[spandidos-publications.com] Objectives : Defects in the chloride channel 7 ( CLCN7 ) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM 166600) and autosomal recessive osteopetrosis[tandfonline.com] View Article : Google Scholar : PubMed/NCBI 6 Bénichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC and Van Hul W: Mapping of autosomal dominant osteopetrosis type[spandidos-publications.com]

  • Spastic Paraparesis-Deafness Syndrome

    neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness.[experts.umich.edu] […] p.Gly285Cys Disease - - Deafness, autosomal dominant, 2A (DFNA2A) [MIM: 600101 ] P56696 non-pleiotropic VAR_008726 p.Trp276Ser Disease - - Deafness, autosomal dominant, 2A[sbg.bio.ic.ac.uk] In complex HSP, examination of the cranial nerves may reveal optic neuropathy, retinal pigmentary degeneration, and/or ophthalmoplegia.[now.aapmr.org]

  • Congenital Optic Disc Coloboma

    […] ltrative optic neuropathies, traumatic optic neuropathies, nutritional and toxic optic neuropathies, hereditary optic neuropathies, and optic disc tumors.[books.google.de] Typical colobomas are inherited as an autosomal dominant trait with variable penetrance and expression.[advancedradteaching.com] This is an autosomal dominant disorder that is important to differentiate from CHARGE syndrome.[retinatoday.com]

  • Behr Syndrome

    His father had a mild isolated optic neuropathy whereas his mother was asymptomatic.[doi.org] Autosomal dominant inheritance has also been described.[ncbi.nlm.nih.gov] Autosomal dominant inheritance also being reported.Compound heterozygous mutations in OPA1 gene were reported.[en.wikipedia.org]

  • Optic Disc Drusen

    […] field defect and signs consistent with acute anterior ischaemic optic neuropathy, confirmed on fluorescein angiography.[ncbi.nlm.nih.gov] Optic nerve head drusen, which are thought to be inherited as an autosomal dominant trait, rare in blacks, and known to be associated with retinitis pigmentosa, have not been[ncbi.nlm.nih.gov] dominant trait.[ncbi.nlm.nih.gov]

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