Brushfield spots

Brushfield spots are small, white or greyish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue, a normal constituent of the iris stroma.

[1] Brushfield spots are a characteristic feature of the chromosomal disorder Down syndrome or trisomy 21.

[2] Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides.

Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of Asian heritage.

[3] Brushfield spots comprise focal areas of iris stromal hyperplasia, surrounded by relative hypoplasia.