A twin study of age-related macular degeneration

Am J Ophthalmol. 1995 Dec;120(6):757-66. doi: 10.1016/s0002-9394(14)72729-1.


Purpose: To determine the importance of genetic factors in age-related macular degeneration by using a twin study to compare the concordance of age-related macular degeneration in monozygotic and dizygotic twin pairs.

Methods: We prospectively examined 134 consecutive twin pairs and two triplet sets for age-related macular degeneration. The zygosity was determined by genetic laboratory tests.

Results: The concordance of age-related macular degeneration was 100% (25 of 25) in monozygotic and 42% (five of 12) in dizygotic twin pairs. The other twins or triplets had no macular changes of age-related macular degeneration.

Conclusions: The statistically significant higher concordance of age-related macular degeneration in monozygotic than in dizygotic twin pairs and the clinical heterogeneity of age-related macular degeneration strongly suggest the importance of genetic and nongenetic factors, respectively, in age-related macular degeneration.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aging / physiology*
  • Diseases in Twins*
  • Female
  • Fundus Oculi
  • Humans
  • Macular Degeneration / etiology*
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Middle Aged
  • Pigment Epithelium of Eye / pathology
  • Prospective Studies
  • Twins, Dizygotic
  • Twins, Monozygotic