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

On the many faces of Leber hereditary optic neuropathy.

Clinical genetics - 1 Jun 1997

Oostra R J, Tijmes N T, Cobben J M, Bolhuis P A, van Nesselrooij B P, Houtman W A, de Kok-Nazaruk M M, Bleeker-Wagemakers E M

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between the eyes becoming affected, course of the disease, concomitant disorders, additional test results, final visual...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Child
Share to Child, Preschool

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

Share to DNA, Mitochondrial

Share to Infant, Newborn

Share to Mutation

Share to Optic Atrophies, Hereditary

Share to Pedigree

Source

Identifiers

PMID: 9237501
DOI: 10.1111/j.1399-0004.1997.tb02496.x

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

On the many faces of Leber hereditary optic neuropathy.PMID 9237501Read ↗

Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning ChoicesSemantic proximity Read ↗

Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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

Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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

Leber hereditary optic neuropathy: clinical and molecular genetic findings.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.Semantic proximity Read ↗

Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.Semantic proximity Read ↗

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

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

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?Semantic proximity Read ↗

[How to distinguish between autosomal dominant optic atrophy and Leber's hereditary optic neuropathy].Semantic proximity Read ↗

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