Familial aggregation of age-related maculopathy

Am J Ophthalmol. 1997 Feb;123(2):199-206. doi: 10.1016/s0002-9394(14)71036-0.


Purpose: To determine whether age-related maculopathy aggregates in families by evaluating whether its prevalence is higher among relatives of case subjects with age-related maculopathy compared with relatives of control subjects without age-related maculopathy.

Methods: Individuals with (n = 119) and without (n = 72) age-related maculopathy were identified. First-degree relatives of case and control probands (parents, siblings, or offspring) 40 years of age or older were asked whether they had ever been diagnosed with macular degeneration. Medical records of 177 case and 146 control relatives confirmed the presence or absence of age-related maculopathy.

Results: The prevalence of medical-record confirmed age-related maculopathy was significantly higher among first-degree relatives of case probands (23.7%) compared with first-degree relatives of control probands (11.6%) with an age- and sex-adjusted odds ratio (OR), 2.4; 95% confidence interval (CI), 1.2 to 4.7; P = .013. Relatives of 78 case probands with exudative disease had a significantly higher prevalence of maculopathy (26.9%) compared with relatives of the 72 unaffected control probands (11.6%) (adjusted OR, 3.1; 95% CI, 1.5 to 6.7; P = .003), whereas the prevalence of age-related maculopathy among relatives of 41 probands with dry maculopathy (19.2%) was slightly but not significantly higher (adjusted OR, 1.5; 95% CI, 0.6 to 3.7; P = .36).

Conclusions: The prevalence of age-related maculopathy among first-degree relatives of subjects with age-related maculopathy, particularly with exudative disease, is greater than among first-degree relatives of subjects without this disease. Results suggest that macular degeneration has a familial component and that genetic or shared environmental factors, or both, contribute to its development.

MeSH terms

  • Adult
  • Aged
  • Disease Progression
  • Female
  • Humans
  • Macular Degeneration / epidemiology*
  • Macular Degeneration / genetics*
  • Macular Degeneration / physiopathology
  • Male
  • Middle Aged
  • Prevalence
  • Retrospective Studies
  • Surveys and Questionnaires