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Enrichment of Bruch's Membrane from Human Donor Eyes
10:22

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Published on: November 15, 2015

Complement factor H 402H variant and reticular macular disease.

R Theodore Smith1, Joanna E Merriam, Mahsa A Sohrab

  • 1Department of Ophthalmology, Harkness Eye Institute, New York, NY 10032, USA. rts1@columbia.edu

Archives of Ophthalmology (Chicago, Ill. : 1960)
|August 10, 2011
PubMed
Summary

The CFH 402H allele is linked to a lower risk of reticular macular disease (RMD), while the ARMS2 69S allele increases RMD risk. These findings suggest RMD may be a distinct form of age-related macular degeneration.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Reticular macular disease (RMD) is a distinct clinical subtype of AMD.
  • Genetic factors play a significant role in AMD pathogenesis.

Purpose of the Study:

  • To investigate the association between high-risk alleles in the complement factor H (CFH) and age-related maculopathy susceptibility (ARMS2) genes and reticular macular disease (RMD).
  • To determine if RMD represents a genetically distinct entity within AMD.

Main Methods:

  • Retinal images from the Columbia Macular Genetics Study were analyzed.
  • 67 individuals with RMD were identified and compared with 64 AMD patients without RMD, matched for ethnicity, age, sex, and AMD stage.
  • Genotyping for CFH (Y402H, rs1061170) and ARMS2 (A69S, rs10490924) alleles was performed.

Main Results:

  • The CFH 402H allele frequency was lower in the RMD group (39.6%) compared to the non-RMD group (58.6%) (P = .003), indicating a protective association.
  • The ARMS2 69S risk allele frequency was higher in the RMD group (44.0%) versus the non-RMD group (31.3%) (P = .045), suggesting an increased risk.
  • Homozygosity for CFH 402H was significantly associated with the absence of RMD (11.9% in RMD vs. 37.5% in non-RMD, P < .001).
  • Hypertension was also associated with RMD in male patients.

Conclusions:

  • The CFH Y402H variant is associated with a reduced risk of RMD, while the ARMS2 A69S variant is associated with an increased risk.
  • These findings support the hypothesis that CFH 402H may offer a survival advantage against certain infections implicated in RMD.
  • Reticular macular disease may be genetically distinct from other forms of AMD.