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

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.

Ophthalmic genetics - 1 Jun 2000

Eksandh L B, Ponjavic V B, Munroe P B, Eiberg H E, Uvebrant P E, Ehinger B E, Mole S E, Andréasson S

Abstract excerpt

PURPOSE: To investigate, using full-field ERG, the retinal function in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN(3) gene. METHODS: Batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the Batten disease gene (CLN(3)). Visual acuity, fundus appearance, and full-field ERG were...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Fluorescein Angiography

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

Share to Membrane Glycoproteins

Share to Molecular Chaperones

Share to Neuronal Ceroid-Lipofuscinoses

Share to Retina

Share to Retinal Degeneration

Share to Visual Acuity

Source

Identifiers

PMID: 10916181

Genes

ERG
CLN3

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 · 10 closest

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.PMID 10916181Read ↗

Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.Semantic proximity Read ↗

Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease.Semantic proximity Read ↗

Spectrum of mutations in the Batten disease gene, CLN3.Semantic proximity Read ↗

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.Semantic proximity Read ↗

Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).Semantic proximity Read ↗

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.Semantic proximity Read ↗

An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease.Semantic proximity Read ↗

Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).Semantic proximity Read ↗

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.Semantic proximity Read ↗

Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs.Semantic proximity Read ↗

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