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

Sirtuin 3 mutation- induced mitochondrial dysfunction and optic neuropathy: a case report.

BMC ophthalmology - 24 Mar 2023

Chun Bo Young, Choi Jung Moon, Hwang Su-Kyeong, Rhiu Soolienah

Abstract excerpt

BACKGROUND: Mitochondrial optic neuropathy is characterized by painless, progressive, symmetrical central vision loss, and dyschromatopsia owing to mitochondrial dysfunction. This report documents a rare case of mitochondrial optic neuropathy due to the SIRT3 gene mutation. CASE PRESENTATION: This report describes a case of a 17-year-old boy who presented with symptoms of bilateral painless, progressive vision...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Mitochondria
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Optic Nerve

Share to Optic Nerve Diseases

Share to Sirtuin 3

Source

Open in PubMed Open full text

Identifiers

PMID: 36964505
DOI: 10.1186/s12886-023-02872-x
PMCID: PMC10037790

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sirtuin 3 mutation- induced mitochondrial dysfunction and optic neuropathy: a case report.PMID 36964505Read ↗

Mitochondrial optic neuropathies.Semantic proximity Read ↗

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.Semantic proximity Read ↗

Mitochondrial SIRT3 and neurodegenerative brain disordersSemantic proximity Read ↗

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.Semantic proximity Read ↗

SIRT1-based therapy targets a gene program involved in mitochondrial turnover in a model of retinal neurodegenerationSemantic proximity Read ↗

A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.Semantic proximity Read ↗

Combined SIRT3 and SIRT5 deletion is associated with inner retinal dysfunction in a mouse model of type 1 diabetesSemantic proximity Read ↗

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.Semantic proximity Read ↗

mtDNA mutations that cause optic neuropathy: how do we know?Semantic proximity Read ↗

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.Semantic proximity Read ↗

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.Semantic proximity Read ↗

Hereditary Optic Neuropathies: From the Mitochondria to the Optic NerveSemantic proximity Read ↗

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