Brushfield spots

Brushfield spots are small, white or grayish/brown spots on the periphery of the iris in the human eye. These spots are named after the British physician, Thomas Brushfield, who first described them in 1924. They are most commonly associated with Down syndrome, a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. However, Brushfield spots can also be found in the eyes of individuals without Down syndrome, particularly in those with lightly pigmented irises.

Characteristics

Brushfield spots are essentially areas of stromal hyperplasia, surrounded by relative hypoplasia. They appear as small, white or light-colored spots on the iris, typically near the edge of the pupil. These spots are more visible in individuals with lighter-colored irises and can be difficult to detect in those with darker irises. The presence of Brushfield spots is not indicative of any functional abnormality in the eye, and they do not affect vision.

Association with Down Syndrome

Brushfield spots are most commonly associated with Down syndrome (Trisomy 21). Approximately 35-78% of individuals with Down syndrome exhibit Brushfield spots. Their presence, along with other physical and genetic markers, can aid in the diagnosis of Down syndrome, especially in newborns. However, the absence of Brushfield spots does not exclude the diagnosis of Down syndrome, as not all individuals with the condition will have them.

Differential Diagnosis

While Brushfield spots are a characteristic feature of Down syndrome, they are not exclusive to the condition. Similar iris spots can be observed in the general population, particularly among those with lighter eye colors. These are sometimes referred to as Wolfflin nodules in individuals without Down syndrome. It is important for healthcare providers to consider the entire clinical picture, including genetic testing, when diagnosing Down syndrome or other conditions.

Clinical Significance

The clinical significance of Brushfield spots lies primarily in their association with Down syndrome. Their presence can prompt further genetic investigation and early diagnosis, which is crucial for the management and support of individuals with Down syndrome. Early intervention programs and therapies can significantly improve the quality of life and developmental outcomes for these individuals.

See Also

• Down syndrome
• Iris (anatomy)
• Genetic disorders
• Pediatric ophthalmology

References

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