Warning: The NCBI web site requires JavaScript to function. more...

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Dominant hereditary optic atrophy

MedGen UID:: 1647918
•Concept ID:: C4551508
•: Disease or Syndrome

Synonym:	Optic Atrophy, Autosomal Dominant
SNOMED CT:	Autosomal dominant optic atrophy (2065009); Dominant hereditary optic atrophy (2065009)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0020250
Orphanet:	ORPHA98672

Definition

An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Dominant hereditary optic atrophy

Pathological process
- Disease
  - Disorder by Site
    - Disorder of orbital region
      - Hereditary eye diseases
        Hereditary optic atrophy
        Dominant hereditary optic atrophy
        Autosomal dominant optic atrophy and peripheral neuropathy
        Autosomal dominant optic atrophy classic form
        Autosomal dominant optic atrophy plus syndrome
        Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
        Optic atrophy 8
        Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
        Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
        Optic atrophy 3

Professional guidelines

PubMed

Current treatment options for treating OPA1-mutant dominant optic atrophy.

Ferro Desideri L, Traverso CE, Iester M
Drugs Today (Barc) 2022 Nov;58(11):547-552. doi: 10.1358/dot.2022.58.11.3448291. PMID: 36422516

From Transcriptomics to Treatment in Inherited Optic Neuropathies.

Gilhooley MJ, Owen N, Moosajee M, Yu Wai Man P
Genes (Basel) 2021 Jan 22;12(2) doi: 10.3390/genes12020147. PMID: 33499292 Free PMC Article

Treatment of hereditary optic neuropathies.

Newman NJ
Nat Rev Neurol 2012 Oct;8(10):545-56. Epub 2012 Sep 4 doi: 10.1038/nrneurol.2012.167. PMID: 22945544

Recent clinical studies

Diagnosis

Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Skidd PM, Lessell S, Cestari DM
Semin Ophthalmol 2013 Sep-Nov;28(5-6):422-6. doi: 10.3109/08820538.2013.825296. PMID: 24138050

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

PubMed
See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
Bookshelf
See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Consumer resources

Reviews

Related information

ClinVar
Related medical variations
PMC Articles
Related information in PubMed Central Links
PubMed
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

Dominant hereditary optic atrophy
Dominant hereditary optic atrophy

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...