Brushfield spots: Difference between revisions

Latest revision as of 05:13, 16 February 2025

Brushfield Spots[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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-'''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.
+== Brushfield Spots ==
-==Characteristics==
+[[File:Brushfield_eyes_magnified.jpg|thumb|right|Magnified view of Brushfield spots in the eye]]
-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 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.
-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==
+== Description ==
-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==
+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.
-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.
+== 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 ==
-==See Also==
 * [[Down syndrome]]
 * [[Iris (anatomy)]]
-* [[Genetic disorders]]
+* [[Thomas Brushfield]]
-* [[Pediatric ophthalmology]]
-==References==
-<references/>
 [[Category:Ophthalmology]]
 [[Category:Genetic disorders]]
-[[Category:Symptoms and signs: Cognition, perception, emotional state and behaviour]]
-{{Medicine-stub}}