Early-onset drusen in a girl with bloom syndrome: probable clinical importance of an ocular manifestation

J Pediatr Hematol Oncol. 2004 Apr;26(4):256-7. doi: 10.1097/00043426-200404000-00009.


Ophthalmic examination of a girl admitted with the complaint of growth failure revealed retinal hard drusen. It was surprising to observe drusen in a child because they represent an age-related degenerative change in normal individuals. After further evaluation, she was diagnosed to have Bloom syndrome, a premature aging syndrome. To the authors' knowledge, this is the first case of Bloom syndrome associated with drusen. It is probable that not only aging but also other fundamental cell processes, especially uncontrolled cell proliferation, might be similarly affected and might follow a more rapid course in this inherited condition presenting with drusen. The authors suggest paying extra attention to drusen during the ophthalmic assessment in the diagnosis of all Bloom syndrome patients; it may be prudent to watch more carefully for the development of cancer in patients with drusen than those without drusen.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Bloom Syndrome / diagnosis*
  • Bloom Syndrome / genetics
  • Female
  • Fluorescein Angiography
  • Humans
  • Neoplasms / epidemiology
  • Retinal Drusen / diagnosis
  • Retinal Drusen / etiology*
  • Retinal Drusen / genetics
  • Sister Chromatid Exchange