Optic disc Drusen associated with trisomy 15q.

Journal of American Association for Pediatric Ophthalmology and Strabismus(2002)

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摘要
The exact mode of inheritance of optic disc drusen remains elusive. They typically appear in the second decade of life and may be associated with progressive visual loss in later years. A child with trisomy 15q syndrome presented prior to the second decade of life with visible disc drusen. The genetic defect may yield a clue to the location of the genetic locus for development of optic disc drusen.
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