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Article

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

Journal of medical genetics - 1 Mar 1994

Gerber S, Odent S, Postel-Vinay A, Janin N, Dufier J L, Munnich A, Frezal J, Kaplan J

Abstract excerpt

Stargardt's disease is an autosomal recessive condition characterised by a rapid and bilateral loss of central vision at around 7 to 12 years, with typical changes in the macular and perimacular region. It is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. Considering that inclusions of lipofuscin-like substances are observed in retinal...

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Source

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Identifiers

PMID: 8014971
DOI: 10.1136/jmg.31.3.222
PMCID: PMC1049747

Genes

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.

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Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.PMID 8014971Read ↗

A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.Semantic proximity Read ↗

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.Semantic proximity Read ↗

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases.Semantic proximity Read ↗

Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.Semantic proximity Read ↗

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.Semantic proximity Read ↗

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.Semantic proximity Read ↗

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Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.Semantic proximity Read ↗

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

Clinical Features of a Stargardt-Like Dominant Progressive Macular Dystrophy With Genetic Linkage to Chromosome 6qSemantic proximity Read ↗

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