RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
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Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy.

BACKGROUND: Errors in neural crest development are responsible for a number of ocular disorders. In some cases, these ocular abnormalities may be associated with systemic disorders, some of which may be life threatening.

METHODS: We reviewed the medical record of 3 children from 2 institutions with a similar constellation of ocular and cardiac abnormalities.

RESULTS: All 3 children had iris hypoplasia with pupils 6-7 mm in diameter that had minimal or no response to light or pharmacological agents. The ocular examinations were otherwise normal. All 3 children also had large aorticopulmonary septal defects which were surgically repaired.

CONCLUSIONS: We report an association between iris hypoplasia and aorticopulmonary septal defects. Like the iris stroma, the aorticopulmonary septum forms from neural crest cells during embryogenesis which divide the truncus arteriosus into the ascending aorta and pulmonary trunk. Children with iris hypoplasia should undergo an immediate cardiac evaluation. It is important that opthalmologists be aware of the association between these two disorders since an aorticopulmonary septal defect is a life-threatening disorder.

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