Related Experiment Video

Updated: Jul 9, 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

Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related

R Keith Shuler1, Silke Schmidt, Paul Gallins

  • 1Duke University Eye Center, Durham, North Carolina 27710, USA.

Ophthalmology
|December 11, 2007
PubMed

Insights

The complement factor H (CFH) Y402H variant is linked to peripheral reticular pigmentary changes in age-related macular degeneration (AMD) patients. This suggests AMD affects more than just the macula, potentially impacting diagnosis and treatment.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • The complement factor H (CFH) gene, specifically the Y402H variant (rs1061170), is a known genetic risk factor for AMD.

Purpose of the Study:

  • To investigate the association between the CFH Y402H variant and specific phenotypic features in AMD patients.
  • To determine if AMD phenotypes associated with the CFH variant extend beyond the macula.

Main Methods:

  • A clinic-based case series study involving 956 unrelated AMD patients.
  • Comparison of AMD phenotypes between 796 carriers and 160 non-carriers of the CFH Y402H variant.
  • Analysis of 34 phenotypic features to identify associations with the CFH variant.

Main Results:

  • Peripheral reticular pigmentary change (PRPC) was significantly associated with the CFH Y402H variant (P = 0.0006).
  • A dose-response relationship was observed between the number of CFH risk C alleles and the proportion of AMD cases with PRPC.

Conclusions:

  • The CFH Y402H polymorphism is associated with PRPC, indicating AMD pathology is not confined to the macula.
  • Current AMD grading systems may need to incorporate peripheral retinal changes.
  • Identifying high-risk genotypes could aid in AMD diagnosis, therapy, and research.
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

Efficient Dissection and Culture of Primary Mouse Retinal Pigment Epithelial Cells08:33

Efficient Dissection and Culture of Primary Mouse Retinal Pigment Epithelial Cells

Published on: February 10, 2021

Related Concept Videos

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, whereas...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
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.