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

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

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2002

Latvala Terho, Mustonen Eila, Uusitalo Raimo, Majamaa Kari

Abstract excerpt

BACKGROUND: Our objective was to determine the penetrance of retinal pigment epithelium (RPE) abnormalities and other ophthalmologic manifestations in patients with the 3243A-->G mutation in mitochondrial DNA. METHODS: Adult members in two generations were examined from a population-based cohort of 13 pedigrees with 3243A-->G. Twenty-six patients underwent a thorough ophthalmological examination. A chart review...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alanine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to Eye Diseases

Share to Glycine

Share to MELAS Syndrome

Share to Pigment Epithelium of Eye

Share to Retinal Diseases

Source

Identifiers

PMID: 12397426
DOI: 10.1007/s00417-002-0555-y

Genes

RPE

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

Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA.PMID 12397426Read ↗

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutationSemantic proximity Read ↗

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

Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation.Semantic proximity Read ↗

Retinal involvement in m.3243A>G carriers.Semantic proximity Read ↗

Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.Semantic proximity Read ↗

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

Neuro-ophthalmology of mitochondrial diseases.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 ↗

Pigmentation and vision: Is GPR143 in control?Semantic proximity Read ↗

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

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

The ophthalmologic manifestations of mitochondrial disease.Semantic proximity Read ↗

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