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Updated: Jul 11, 2026

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

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Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction.

Peter J Coffey1, Carlos Gias, Caroline J McDermott

  • 1Division of Cellular Therapy, Institute of Ophthalmology, University College London, London EC1V 9EL, United Kingdom.

Proceedings of the National Academy of Sciences of the United States of America
|October 9, 2007
PubMed
Summary

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Complement factor H (CFH) is essential for retinal health. CFH deficiency in mice led to vision loss and retinal structural damage, highlighting its critical role in preventing age-related macular degeneration.

Area of Science:

  • Ophthalmology
  • Immunology
  • Genetics

Background:

  • Age-related macular degeneration (AMD) is a leading cause of blindness.
  • Genetic variations in complement factor H (CFH) are linked to AMD susceptibility.

Purpose of the Study:

  • To investigate the role of CFH in retinal health and disease.
  • To analyze the functional and anatomical consequences of CFH deficiency in a mouse model.

Main Methods:

  • Functional analysis using electroretinography to assess visual acuity and rod response.
  • Anatomical analysis via confocal scanning laser ophthalmoscopy and tissue section examination.
  • Utilized CFH-deficient (cfh(-/-)) mice and age-matched controls.

Main Results:

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Last Updated: Jul 11, 2026

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  • CFH-deficient mice showed significantly reduced visual acuity and rod function.
  • Increased autofluorescent subretinal deposits were observed in cfh(-/-) mice.
  • Accumulation of complement C3, Bruch's membrane thinning, and photoreceptor disorganization were noted in deficient mice.

Conclusions:

  • CFH is crucial for maintaining long-term retinal function.
  • CFH deficiency leads to retinal pathology even without external immune challenges.
  • This study underscores the importance of CFH in preventing retinal degeneration.