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Am J Ophthalmol. 1992 Apr 15;113(4):443-6.

Familial total ophthalmoplegia with iris transillumination (a neurocristopathy).

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  • 1Children's Mercy Hospital, University of Missouri Kansas City School of Medicine, Kansas City.


A family with total (internal and external) ophthalmoplegia had associated iris transillumination. No abnormal visual-evoked response brain lateralization indicative of albinism was found. On the basis of avian chimera experiments showing iris muscles to be derived from neural crest cells, we proposed a neurocristopathic theory to explain all clinical findings in this family.

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