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Article

Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

JAMA ophthalmology - 1 Nov 2021

de Breuk Anita, Heesterbeek Thomas J, Bakker Bjorn, Verzijden Timo, Lechanteur Yara T E, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel B

Abstract excerpt

IMPORTANCE: Early-onset drusen maculopathy (EODM) is a severe disease and can lead to advanced macular degeneration early in life; however, genetic and phenotypic characteristics of individuals with EODM are not well studied. OBJECTIVE: To identify genotypic and phenotypic characteristics of individuals with EODM. DESIGN, SETTING, AND PARTICIPANTS: This case-control study collected data from the European Genetic...

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Identifiers

PMID: 34647987
DOI: 10.1001/jamaophthalmol.2021.4102
PMCID: PMC8517879

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