Brushfield spots

Brushfield Spots

Magnified view of Brushfield spots in the eye

Brushfield spots are small, white or grayish/brown spots on the periphery of the iris in the human eye. They are a characteristic feature often associated with Down syndrome, although they can occasionally be found in individuals without the condition.

Description

Brushfield spots are named after the British physician Thomas Brushfield, who first described them in 1924. These spots are aggregations of connective tissue and are more commonly observed in individuals with lighter-colored irises. They appear as small, white or light-colored specks arranged in a ring around the iris.

Occurrence

Brushfield spots are most commonly associated with Down syndrome, a genetic disorder caused by the presence of an extra copy of chromosome 21. They are present in approximately 35-78% of individuals with Down syndrome. However, they can also be found in a small percentage of the general population, particularly in those with light-colored eyes.

Clinical Significance

While Brushfield spots themselves do not affect vision or cause any health issues, their presence can be a useful clinical marker for the diagnosis of Down syndrome, especially in newborns. They are one of several physical features that may be assessed by healthcare professionals when evaluating a child for Down syndrome.

Related Conditions

Brushfield spots are part of a group of physical characteristics that may be present in individuals with Down syndrome. Other features can include epicanthic folds, a flat facial profile, and a single transverse palmar crease.

Related Pages

• Down syndrome
• Iris (anatomy)
• Thomas Brushfield