Brushfield spots

Child with Down syndrome showing eyes exhibiting both Brushfield spots and heterochromia

The Brushfield spots are the spots between the inner and outer red circles.

Brushfield spots are small, white or grayish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue, a normal iris element. The spots are named after the physician Thomas Brushfield, who first described them in his 1924 M.D. thesis.^[1]

These spots are normal in children (Kunkmann-Wolffian bodies), but are also a feature of the chromosomal disorder Down syndrome. They occur in 35–78% of newborn infants with Down syndrome.^[2] They are much more likely to occur in children with Down syndrome of European descent than children of Asian heritage with Down's Syndrome.^[3]

They are focal areas of stromal hyperplasia, surrounded by relative hypoplasia, and are more common in patients with lightly pigmented irises.

References

1. Wallis, Hugh R.E. "The Significance of Brushfield's Spots in the Diagnosis of Mongolism in Infancy", Archives of Disease in Childhood, 1951 December; 26 (130): 495-500. Retrieved on 21 March 2009.
2. Sanez, R.B. (January 1999), "Primary care of infants and young children with Down syndrome", American Family Physician 59 (2)
3. Kim, J.H.; et al. (November 2002), "Characteristic ocular findings in Asian children with Down syndrome", Nature 16 (6)