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

[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics].

Journal francais d'ophtalmologie - 1 Jan 1997

Souied E, Pisella P J, Ossareh B, Brézin A, Junes P, Wild-Decrette C, Munnich A, Bonnefont J P, Mondon H

Abstract excerpt

INTRODUCTION: Leber's hereditary optic neuropathy (LHON) is a bilateral optic atrophy, more common in males than in females. No specific clinical feature or biologic test exists to evidence LHON. We report here the case of a man affected with a nonfamilial bilateral optic atrophy, whose diagnostic remained uncertain for 17 years. PATIENT AND METHODS: This patient was hospitalized at the age of 27 in order to...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to Molecular Biology

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

Share to Mutation

Share to Optic Atrophies, Hereditary

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 9099286

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

[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics].PMID 9099286Read ↗

[Clinical examination of Leber hereditary optic neuropathy in patients with the same gene mutation].Semantic proximity Read ↗

[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families].Semantic proximity Read ↗

[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy].Semantic proximity Read ↗

[Mutation analysis in a family of Leber hereditary optic neuropathy].Semantic proximity Read ↗

Leber's hereditary optic neuropathy. New genetic considerations.Semantic proximity Read ↗

[Study on three common mitochondrial DNA mutations in Leber's hereditary optic neuropathy].Semantic proximity Read ↗

[Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy].Semantic proximity Read ↗

[Leber hereditary optic neuropathy: clinical picture and initial workup data].Semantic proximity Read ↗

[Leber's hereditary optic neuropathy].Semantic proximity Read ↗

Atypical Leber's hereditary optic neuropathy with molecular confirmation.Semantic proximity Read ↗

[Sudden blindness: consider Leber's hereditary optic neuropathy].Semantic proximity Read ↗

[A clinical study of Leber hereditary optic neuropathy].Semantic proximity Read ↗

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