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


Aslan D., Ozturk G., Kaya Z., Bideci A., Ozdogaan S., Gursel T.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.26, no.4, pp.256-257, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 4
  • Publication Date: 2004
  • Doi Number: 10.1097/00043426-200404000-00009
  • Title of Journal : JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Page Numbers: pp.256-257

Abstract

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.