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
- 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.