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Related Experiment Video

Updated: May 28, 2026

Enrichment of Bruch's Membrane from Human Donor Eyes

Enrichment of Bruch's Membrane from Human Donor Eyes

Published on: November 15, 2015

Complement factor D in age-related macular degeneration.

Chloe M Stanton¹, John R W Yates, Anneke I den Hollander

¹MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom.

Investigative Ophthalmology & Visual Science

|October 18, 2011

Summary

This summary is machine-generated.

Complement factor D (CFD) plays a role in age-related macular degeneration (AMD). Genetic association and elevated plasma CFD levels were found in AMD patients, particularly females, suggesting CFD

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Area of Science:

Ophthalmology
Immunology
Genetics

Background:

Age-related macular degeneration (AMD) is a leading cause of vision loss.
The alternative complement pathway is implicated in AMD pathogenesis.
Complement factor D (CFD) is a key regulator of this pathway.

Purpose of the Study:

To investigate the role of complement factor D (CFD) in age-related macular degeneration (AMD).
Analysis included genetic association, copy number variation, and plasma CFD concentrations.

Main Methods:

Genotyping of single nucleotide polymorphisms (SNPs) in the CFD gene.
Analysis of CFD gene copy number.
Measurement of plasma CFD concentrations using enzyme-linked immunosorbent assay (ELISA).

Main Results:

A genetic association was found between CFD SNP rs3826945 and AMD, particularly in females.
Plasma CFD concentrations were significantly elevated in AMD cases compared to controls, especially in females.
No significant difference in CFD gene copy number variation frequency was observed between AMD cases and controls.

Conclusions:

Evidence supports a role for CFD in the pathogenesis of age-related macular degeneration (AMD).
Genetic variations in CFD and increased plasma CFD levels are associated with AMD.
These findings highlight CFD as a potential therapeutic target for AMD.