title: Early-onset drusen in a girl with bloom syndrome: probable clinical importance of an ocular manifestation.
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.
authors.affiliation: Section of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey. drdahutf@ixir.com
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
authors.forename: Gülyüz
authors.initials: G
authors.lastname: Oztürk
authors.forename: Zühre
authors.initials: Z
authors.lastname: Kaya
authors.forename: Aysun
authors.initials: A
authors.lastname: Bideci
authors.forename: Sibel
authors.initials: S
authors.lastname: Ozdogãan
authors.forename: Sengül
authors.initials: S
authors.lastname: Ozdek
authors.forename: Türkiz
authors.initials: T
authors.lastname: Gürsel
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001816:Bloom Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D009369:Neoplasms / Q000453:epidemiology; D015593:Retinal Drusen / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012854:Sister Chromatid Exchange