Related Experiment Video

Updated: Jan 11, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.7K

Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or

Francesco Cinque1, Anita de Breuk1, Haras Mhmud1

  • 1Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Investigative Ophthalmology & Visual Science
|November 12, 2025
PubMed

Insights

Rare variants in Complement Factor I (CFI) or Complement Factor H (CFH) genes increase the incidence of late age-related macular degeneration (AMD). These findings suggest potential for gene-targeted therapies in AMD management.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Rare variants in Complement Factor I (CFI) and Complement Factor H (CFH) genes are linked to age-related macular degeneration (AMD).
  • Understanding the incidence and progression of AMD in carriers of these variants is crucial for developing targeted treatments.

Purpose of the Study:

  • To compare the incidence of late AMD in carriers of rare CFI/CFH variants against a reference cohort.
  • To evaluate short-term AMD progression, including geographic atrophy (GA) and visual function, in a cohort of variant carriers.

Main Methods:

  • A cohort study utilizing a long follow-up (LF) cohort (retrospective, >5 years) and a short follow-up (SF) cohort (prospective, 1 year).
  • Patients with rare CFH/CFI variants were identified from the European Genetic Database.
  • The LF-cohort assessed late AMD incidence per 100 person-years, compared to a matched reference cohort.
  • The SF-cohort measured annual GA growth, retinal sensitivity, and visual acuity.

Main Results:

  • The LF-cohort (28 patients) showed a significantly higher incidence of late AMD (6.2 per 100 person-years) compared to the reference cohort (1.8 per 100 person-years, P=0.01).
  • In the SF-cohort (44 patients), mean annual GA growth was 0.22 mm.
  • Retinal sensitivity decreased in late-staged eyes (P=0.03 for right eye), while visual acuity remained stable.

Conclusions:

  • Carriers of rare CFI or CFH variants exhibit an elevated incidence of late AMD.
  • These findings support the potential benefit of personalized gene therapy and complement inhibition strategies for AMD patients with these genetic variants in future clinical trials.
Abstract

More Related Videos

Enrichment of Bruch's Membrane from Human Donor Eyes10:22

Enrichment of Bruch's Membrane from Human Donor Eyes

Published on: November 15, 2015

12.5K
Author Spotlight: Overcoming Anti-VEGF Resistance Through Advanced Vascular Morphology Assessment in Choroidal Neovascularization05:14

Author Spotlight: Overcoming Anti-VEGF Resistance Through Advanced Vascular Morphology Assessment in Choroidal Neovascularization

Published on: August 11, 2023

1.5K

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
113.6K
iPS Cell Differentiation01:22

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
3.0K
Translation01:31

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
17.5K
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
155.0K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
8.7K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
380