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Article

Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.

Investigative ophthalmology & visual science - 1 Feb 2002

Bernstein Paul S, Leppert Mark, Singh Nanda, Dean Michael, Lewis Richard Alan, Lupski James R, Allikmets Rando, Seddon Johanna M

Abstract excerpt

PURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on siblings of patients with AMD who had known ABCR variants. This genetically related population provides a cohort of...

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Source

Identifiers

PMID: 11818392

Genes

ABCA4

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.

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Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.PMID 11818392Read ↗

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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.Semantic proximity Read ↗

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