Tuesday, October 2, 2012

31 for 21 Blog Challenge: DAY TWO: Brushfield Spots

Brushfield Spots - Have you heard of them?  I hadn't either.  Brushfield spots were first described in 1924, by Thomas Brushfield.  They refer to the little white or yellow spots on the anterior surface of the iris.  They can be arranged in a circle concentric with the pupil, mid periphery, or along the collarette.  They are caused by an aggregation of connective tissue.  Brushfield spots occur in 85% of blue or hazel eyed individuals with Down Syndrome (DS).  Only 17% of brown eyed individuals with DS have Brushfield spots as they are obscured by the anterior concentration of pigment cells.

Here are two pictures illustrating Brushfield spots:

It is important to differentiate these from "Kunkmann Wolffian Bodies" which are present in most children and in 15% of normal, light colored iris.  Kunkmann Wolffian bodies are less distinct, less numerous, and more peripheral than Brushfield spots.

Brushfield spots are a common characteristic of Trisomy 21.  Other ophthalmologic manifestations of Down Syndrome include:
  • Refractive errors (near/far sightedness) and squinting - 50% of individuals with DS wear glasses.
  • Reduced accomodation (do not focus accurately on targets)
  • Cataracs and glaucoma - can occur in infancy
  • Astigmatism
  • Presbyopia (literally 'old eye') - may occur at a younger age in a person with DS
  • Nystagmus - occurs in approximately 15% of people with DS
  • Keratoconus - very rare but studies suggest that people with DS are at an increased risk.
Josiah has the Brushfield Spots described above.  I think it gives his eyes a unique and special sparkle.  I wouldn't trade his eyes for the world.  They are beautiful.

"The eyes indicate the antiquity of the soul"
- Ralph Waldo Emerson

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