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

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature

6 Jun 2014

Abstract excerpt

BACKGROUND: The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness). Both MELAS and MIDD patients can present with visual symptoms due to a retinopathy, sometimes before the genetic diagnosis is made. CASE PRESENTATION: Patient 1: 46 year-old woman...

Read the complete abstract on PubMed

Topics

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

Share to Adipose Tissue and Metabolism
Share to Mitochondrial Function and Pathology
Share to Photosynthetic Processes and Mechanisms

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

Source

Identifiers

PMID: 24906873
DOI: 10.1186/1471-2415-14-77

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 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

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literaturePMID 24906873Read ↗

The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.Semantic proximity Read ↗

Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.Semantic proximity Read ↗

Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy.Semantic proximity Read ↗

Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA.Semantic proximity Read ↗

Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation.Semantic proximity Read ↗

Neuro-ophthalmology of mitochondrial diseases.Semantic proximity Read ↗

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

Macular Dystrophy Associated With the A3243G Mitochondrial DNA MutationSemantic proximity Read ↗

The ophthalmologic manifestations of mitochondrial disease.Semantic proximity Read ↗

Ophthalmic manifestations of mitochondrial disorders.Semantic proximity Read ↗

A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.Semantic proximity Read ↗

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.Semantic proximity Read ↗

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