Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Genes - 2 Jun 2022

Othman Bayan Al, Ong Jia Ern, Dumitrescu Alina V

Abstract excerpt

Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290. This case report details a family with Biallelic Optic Atrophy 1 (OPA1)....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to GTP Phosphohydrolases
Share to Mutation
Share to Optic Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Optic Atrophy, Autosomal Dominant

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 35741767
DOI: 10.3390/genes13061005
PMCID: PMC9223020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.PMID 35741767Read ↗

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Semantic proximity Read ↗

Dominant optic atrophySemantic proximity Read ↗

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.Semantic proximity Read ↗

Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.Semantic proximity Read ↗

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.Semantic proximity Read ↗

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.Semantic proximity Read ↗

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.Semantic proximity Read ↗

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.Semantic proximity Read ↗

Multi-system neurological disease is common in patients with OPA1 mutations.Semantic proximity Read ↗

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Semantic proximity Read ↗

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.