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Iris Sector Heterochromia as a Marker for Neural Crest Disease

Sheila M. Brazel, MD; Timothy J. Sullivan, FRACO, FCOphth; Paul S. Thorner, FRCPC; Michael P. Clarke, FRCS, FCOphth; William S. Hunter, FRCSC; J. Donald Morin, FRCSC
Arch Ophthalmol. 1992;110(2):233-235. doi:10.1001/archopht.1992.01080140089033.
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•A 6-month-old female infant with biopsy-proved Hirschsprung's disease had associated sector heterochromia of the irides. The association between sector heterochromia and Hirschsprung's disease has been previously reported and both conditions have been ascribed to neural crest defects. Histologic characteristics of the ocular involvement have not previously been reported, to our knowledge. Histopathologic examination of the globes revealed decreased iris stroma, decreased pigmentation in the anterior stroma, and reduced numbers of pigment-producing cells in the affected areas. Both the ocular and gastrointestinal findings reflect abnormalities in tissues of neural crest origin.


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