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

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Aug 2015

Bergholz Richard, Kohlschütter Alfried, Schulz Angela, Hubert Waltraud, Rüther Klaus

Abstract excerpt

PURPOSE: The objective of this study was to establish an ophthalmologic phenotype of heterozygous carriers of juvenile neuronal ceroid lipofuscinosis (CLN3 disease, Batten disease). METHODS: The eyes and vision of nine heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with classical CLN3 mutations were examined using the following methods: clinical examination, visual acuity, ophthalmoscopy,...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Nerve Fibers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuronal Ceroid-Lipofuscinoses

Share to Physical Examination

Share to Retinal Ganglion Cells

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Visual Field Tests

Source

Identifiers

PMID: 25338278
DOI: 10.1007/s00417-014-2814-0

Genes

CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.PMID 25338278Read ↗

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.Semantic proximity Read ↗

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.Semantic proximity Read ↗

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Semantic proximity Read ↗

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

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 ↗

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

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

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.Semantic proximity Read ↗

Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.Semantic proximity Read ↗

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