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

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

The British journal of ophthalmology - 1 May 2016

Desai Ninad, Weisfeld-Adams James D, Brodie Scott E, Cho Catherine, Curcio Christine A, Lublin Fred, Rucker Janet C

Abstract excerpt

BACKGROUND: The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic...

Read the complete abstract on PubMed

Topics

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

Share to Evoked Potentials, Visual
Share to Optic Nerve Diseases
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Siblings

Share to Tomography, Optical Coherence

Share to Vision Disorders

Share to Visual Acuity

Share to Visual Fields

Source

Identifiers

PMID: 26307451
DOI: 10.1136/bjophthalmol-2015-307012

Genes

LYST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26307451-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.PMID 26307451Read ↗

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.Semantic proximity Read ↗

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.Semantic proximity Read ↗

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.Semantic proximity Read ↗

Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection.Semantic proximity Read ↗

C9ORF72 deficiency results in degeneration of the zebrafish retina <i>in vivo</i>Semantic proximity Read ↗

Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.Semantic proximity Read ↗

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.Semantic proximity Read ↗

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.Semantic proximity Read ↗

Chediak-Higashi syndrome.Semantic proximity Read ↗

Early-onset optic neuropathy as initial clinical presentation in SPG7.Semantic proximity Read ↗

Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patientsSemantic proximity Read ↗

[Juvenile neuronal ceroid lipofuscinosis. Ophthalmologic findings and differential diagnosis].Semantic proximity Read ↗

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