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Article

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.

Journal of child neurology - 1 Jan 2004

de los Reyes Emily, Dyken Paul Richard, Phillips Paul, Brodsky Michael, Bates Stephen, Glasier Charles, Mrak Robert E

Abstract excerpt

The neuronal ceroid-lipofuscinoses are a group of diseases that are characterized by progressive neuroretinal symptomatology, progressive accumulation of autofluorescing waxy lipopigments (ceroid-lipofuscin) within the brain and other tissues, and cerebral atrophy. Juvenile neuronal ceroid-lipofu...

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Source

Identifiers

PMID: 15032383
DOI: 10.1177/08830738040190010703

Genes

CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15032383-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.PMID 15032383Read ↗

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