Heredity of small hard drusen in twins aged 20-46 years

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Abstract PURPOSE: To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20-46 years. METHODS: Grayscale digital fundus photography, four-field 50 degrees nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 microm) were counted and graded by distribution type. RESULTS: Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the heritability of small hard drusen was 63% (95% confidence interval [CI], 43% to 77%). More than 20 drusen per eye were found in 26 subjects, and the heritability of this phenotype was 99% (95% CI, 82% to 100%). CONCLUSIONS: Hard drusen are prevalent in young adults, and having more than 20 drusen per eye is a highly hereditary feature. Additional research is needed to determine whether the presence of small hard drusen correlates with the development of age-related macular degeneration later in life and to explore the relation to AMD genotypes.


  • Inger Christine Munch
  • Birgit Sander
  • Line Kessel
  • Jesper Leth Hougaard
  • Nina Charlotte Bille Brahe Taarnhøj
  • Thorkild I A Sørensen
  • Kirsten Ohm Kyvik
  • Michael Larsen
Externa organisationer
  • University of Copenhagen

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Oftalmologi
Sidor (från-till)833-838
TidskriftInvestigative Ophthalmology & Visual Science
Utgåva nummer2
StatusPublished - 2007
Peer review utfördJa
Externt publiceradJa