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

Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Mar 2019

Painter Sally L, Sipkova Zuzana, Emmanouil Beatrice, Halliday Dorothy, Parry Allyson, Elston John S

Abstract excerpt

OBJECTIVE: Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Although ophthalmic features are present in patients with NF2, there are...

Read the complete abstract on PubMed

Topics

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

Share to Eye Diseases
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Meningeal Neoplasms

Share to Neurofibromatosis 2

Share to Optic Disk

Share to Severity of Illness Index

Share to Visual Acuity

Source

Identifiers

PMID: 29923868
DOI: 10.1097/WNO.0000000000000675

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type.PMID 29923868Read ↗

Neurofibromatosis Type I: Genetics and Clinical ManifestationsSemantic proximity Read ↗

Genetic Severity Score predicts clinical phenotype in NF2.Semantic proximity Read ↗

Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2.Semantic proximity Read ↗

Neurofibromatosis Type 1 (NF1)-Related Ocular Signs: New Insights on Their Prevalence, Incidence, and Genotype-Phenotype Correlation in NF1 Children.Semantic proximity Read ↗

Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2.Semantic proximity Read ↗

Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2.Semantic proximity Read ↗

[NF2: ocular, neural and genetic manifestations].Semantic proximity Read ↗

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.Semantic proximity Read ↗

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.Semantic proximity Read ↗

[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].Semantic proximity Read ↗

Phenotypic variability in monozygotic twins with neurofibromatosis 2.Semantic proximity Read ↗

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionSemantic proximity Read ↗

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