Risk factors associated with reticular pseudodrusen versus large soft drusen

Am J Ophthalmol. 2014 May;157(5):985-993.e2. doi: 10.1016/j.ajo.2014.01.023. Epub 2014 Jan 31.

Abstract

Purpose: To investigate genetic, environmental, and systemic risk factors in prospectively identified subjects with the age-related macular degeneration (AMD) phenotypes of (1) reticular pseudodrusen without large soft drusen and (2) large soft drusen without reticular pseudodrusen.

Design: Prospective case-case comparison.

Methods: In a clinical practice setting, patients with AMD were sequentially screened using clinical examination and scanning laser ophthalmoscopy imaging to prospectively identify subjects (n = 73) with the phenotypes of (1) reticular pseudodrusen without large soft drusen (n = 30) or (2) large soft drusen without reticular pseudodrusen (n = 43). Subjects were genotyped for 2 alleles associated with AMD, age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH). A questionnaire was administered to collect history of smoking, hypertension, diabetes, and hyperlipidemia, as well as personal and family history of AMD.

Results: The reticular pseudodrusen group was older (median age 87 vs 81 years, P = .04) and had more female subjects (83.3% vs 48.8%, P = .003), later ages of AMD onset (83 vs 70 years, P = .0005), and a greater frequency of hypertension (76.7% vs 55.8%, P = .08). No significant differences were found in the distribution of the ARMS2 risk allele (P = .4) between the reticular pseudodrusen (homozygous = 20.0%; heterozygous = 56.7%) and large soft drusen (homozygous = 19.0%; heterozygous = 42.9%) phenotypes, or in the distribution of the CHF risk allele (P = .7) between the reticular pseudodrusen (homozygous = 26.7%; heterozygous = 56.7%) and large soft drusen (homozygous = 21.4%; heterozygous = 66.7%) phenotypes.

Conclusions: The reticular pseudodrusen phenotype was associated with increased age, later age of AMD onset, and female sex.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Complement Factor H / genetics
  • Cross-Sectional Studies
  • Female
  • Gene-Environment Interaction
  • Genotype
  • Geographic Atrophy / diagnosis
  • Geographic Atrophy / epidemiology*
  • Geographic Atrophy / genetics
  • Humans
  • Male
  • Ophthalmoscopy
  • Prospective Studies
  • Proteins / genetics
  • Retinal Drusen / diagnosis
  • Retinal Drusen / epidemiology*
  • Retinal Drusen / genetics
  • Risk Factors
  • Surveys and Questionnaires
  • Tomography, Optical Coherence
  • Wet Macular Degeneration / diagnosis
  • Wet Macular Degeneration / epidemiology*
  • Wet Macular Degeneration / genetics

Substances

  • ARMS2 protein, human
  • CFH protein, human
  • Proteins
  • Complement Factor H