May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Association of Peripheral Retinal Drusen and Reticular Pigment Changes With CFHY402H and CFH rs1410996 Genotypes in Family and Twin Studies of Age-Related Macular Degeneration
Author Affiliations & Notes
  • J. M. Seddon
    New England Eye Ctr, Tufts-New England Med Ctr, Boston, Massachusetts
  • R. Reynolds
    New England Eye Ctr, Tufts-New England Med Ctr, Boston, Massachusetts
  • B. Rosner
    Channing Laboratory, Harvard Medical School, Boston, Massachusetts
  • Footnotes
    Commercial Relationships  J.M. Seddon, None; R. Reynolds, None; B. Rosner, None.
  • Footnotes
    Support  NIH Grant EY11309, Foundation Fighting Blindness, Mass. Lions Eye Research Fund, Research to Prevent Blindness, Macular Degeneration Research Fund
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1709. doi:https://doi.org/
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      J. M. Seddon, R. Reynolds, B. Rosner; Association of Peripheral Retinal Drusen and Reticular Pigment Changes With CFHY402H and CFH rs1410996 Genotypes in Family and Twin Studies of Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1709. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To evaluate the relationship between peripheral retinal drusen and reticular pigment changes and genotypes associated with age-related macular degeneration (AMD).

Methods: : In our ongoing studies of AMD since 1989 standardized clinical data collection forms have been used for assessment of phenotypes including AMD grade and presence of peripheral retinal drusen and pigment abnormalities. AMD is graded using the Clinical Age-Related Maculopathy Grading System (CARMS) as grade 1 (no AMD), grade 2 (small drusen and/or pigment irregularities), grade 3 (intermediate AMD), grade 4 (geographic atrophy) or grade 5 (neovascular disease). Peripheral retinal findings are noted and graded. This study sample includes 1650 family members and twins who were genotyped for AMD related variants.

Results: : Peripheral drusen were associated with CFHY402H in both eyes, with p for trend < 0.001 for increase in drusen with each additional risk (C) allele, compared with the TT genotype (drusen present in 7% of TT, 10% of CT, and 18% of CC genotypes).Similar results were seen for CFH rs1410996. Peripheral reticular pigment changes were also related to CFHY402H in both eyes, with p for trend < 0.001 for increase in pigment with each risk allele (reticular pigment present in 18% of TT, 26% of CT, and 33% of CC genotypes). Similar results were seen for CFH rs1410996. These associations were not present for the LOC387715 A69S gene region, C2 or CFB. In a subgroup analysis, there was a slight trend for more reticular pigment with presence of the C3 risk allele which was not statistically significant. Additional results related to extramacular findings and genotype will be presented.

Conclusions: : Peripheral retinal drusen and reticular pigment changes are associated with CFH Y402H and CFH rs1410996 genotypes.

Keywords: age-related macular degeneration • genetics • clinical (human) or epidemiologic studies: risk factor assessment 
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