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Article

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Clinical genetics - 1 Dec 2018

Kersten Eveline, Geerlings Maartje J, Pauper Marc, Corominas Jordi, Bakker Bjorn, Altay Lebriz, Fauser Sascha, de Jong Eiko K, Hoyng Carel B, den Hollander Anneke I

Abstract excerpt

It can be clinically challenging to distinguish dry age-related macular degeneration (AMD) from AMD-mimicking dystrophies, and sometimes misdiagnosis occurs. With upcoming therapies for dry AMD it is important to exclude patients with a different retinal disease from clinical trials. In this study we evaluated the occurrence of AMD-mimicking dystrophies in an AMD cohort. Whole-exome sequencing (WES) was performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30215852
DOI: 10.1111/cge.13447
PMCID: PMC6282796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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