Brushfield spots
Brushfield spots (pronounced: brʌʃfiːld spɒts) 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 anatomical variation. They are named after the British ophthalmologist, Thomas Brushfield, who first described them in his 1924 paper.
Etymology
The term "Brushfield spots" is named after Thomas Brushfield, a British ophthalmologist who first described these spots in 1924. The term is used to describe the characteristic appearance of these spots in the eyes of individuals, particularly those with Down Syndrome.
Appearance and Location
Brushfield spots are typically small, white or grayish/brown spots that appear on the periphery of the iris. They are caused by the aggregation of connective tissue, which is a normal anatomical variation. These spots are more commonly found in individuals with Down Syndrome, but can also appear in the general population.
Relation to Down Syndrome
Brushfield spots are often associated with Down Syndrome, a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. They are found in 35-78% of individuals with Down Syndrome. However, they can also be found in individuals without Down Syndrome, in which case they are referred to as 'Wolfflin spots'.
Related Terms
- Iris (eye): The colored part of the eye, which includes the muscle that opens and closes the pupil to control the amount of light that enters the eye.
- Connective tissue: A type of tissue that provides support and structure to other tissues and organs in the body.
- Down Syndrome: A genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
- Thomas Brushfield: The British ophthalmologist who first described Brushfield spots.
- Wolfflin spots: The term used to describe Brushfield spots when they appear in individuals without Down Syndrome.
External links
- Medical encyclopedia article on Brushfield spots
- Wikipedia's article - Brushfield spots
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