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. The spots are named after the physician Thomas Brushfield, who first described them in his 1924 M.D. thesis.[1]
Brushfield spots are a characteristic feature of the chromosomal disorder Down syndrome or trisomy 21. They occur in 35–78% of newborn infants with Down syndrome.[2] Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides. Hence, they are much more likely to be observed in children with lightly pigmented eyes. 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.
Similar spots described by Krückmann[4] and Wolfflin[5] are found in individuals without Down syndrome. Termed Krückmann-Wolfflin bodies, these spots typically are less well defined, fewer in number and more peripherally located than the Brushfield spots of trisomy 21.[6]
References[edit]
- ^ Wallis, Hugh R.E. "The Significance of Brushfield's Spots in the Diagnosis of Mongolism in Infancy", Archives of Disease in Childhood, 1951 December; 26 (130): 495-500. Retrieved on 21 March 2009.
- ^ Sanez, R.B. (January 1999), "Primary care of infants and young children with Down syndrome", American Family Physician, vol. 59, no. 2, p. 381, archived from the original on 2011-06-06, retrieved 2007-10-18
- ^ Kim, J.H.; et al. (November 2002), "Characteristic ocular findings in Asian children with Down syndrome", Nature, vol. 16, no. 6, pp. 710–714, doi:10.1038/sj.eye.6700208, PMID 12439664
- ^ Krückmann, E. (1907), "Die Erkrankungen des Uvealtractus und des Glaskopers Regenbogenhaut", in Graefe, A. von; Saemisch, T. (eds.), Handbuch der gesamten Augenheilkunde, vol. 5, pp. 1–11
- ^ Wolfflin, E. (1902), "Ein klinischer Beitrag zur Kenntniss der Structur der Iris", Arch. F. Augenh, 45: 1–4
- ^ Donaldson, DD (1961), "The Significance of Spotting of the Iris in Mongoloids: Brushfield Spots", Arch. Ophthalmol., 65 (1): 26–31, doi:10.1001/archopht.1961.01840020028007