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Article

[Juvenile neuronal ceroid lipofuscinosis. Ophthalmologic findings and differential diagnosis].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Jul 2010

Krohne T U, Herrmann P, Kopitz J, Rüther K, Holz F G

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCL) are a heterogeneous group of neurodegenerative diseases with mostly autosomal recessive inheritance whose common feature is the intralysosomal accumulation of ceroid lipofuscin. With varying manifestation ages the diseases result in cognitive and motor deterio...

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Source

Identifiers

PMID: 20454901
DOI: 10.1007/s00347-009-2106-y

Genes

CLN3
ERG
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20454901-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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