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Article

A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.

Investigative ophthalmology & visual science - 30 Apr 2012

Fritsche Lars G, Fleckenstein Monika, Fiebig Britta S, Schmitz-Valckenberg Steffen, Bindewald-Wittich Almut, Keilhauer Claudia N, Renner Agnes B, Mackensen Friederike, Mößner Andreas, Pauleikhoff Daniel, Adrion Christine, Mansmann Ulrich, Scholl Hendrik P N, Holz Frank G, Weber Bernhard H F

Abstract excerpt

Purpose. Age-related macular degeneration (AMD) is a heterogeneous condition of high prevalence and complex etiology involving genetic as well as environmental factors. By fundus autofluorescence (FAF) imaging, AMD can be classified into several distinct phenotypes, with one subgroup characterized by fine granular pattern with peripheral punctate spots (GPS[+]). Some features of GPS[+] overlap with Stargardt...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22427542
DOI: 10.1167/iovs.11-8785

Genes

ABCA4
ARMS2
CFH

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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