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Ocular malformations associated with agnathia: a case report
R L Peiffer1, T W Bouldin, W D Huffines
1Department of Ophthalmology, School of Medicine, University of North Carolina, Chapel Hill 27599-7040.
Journal of Craniofacial Genetics and Developmental Biology
|January 11, 1992
Abstract:
Ocular malformations associated with agnathia in a 34-week gestational age infant were studied histopathologically and included asymmetric microphthalmos. Aphakia and retinal dysplasia were noted in the most severely affected globe; the fellow eye was characterized by microcornea, anterior segment dysgenesis, uveal colobomas, and retinal dysplasia. Aplasia of the optic nerve was seen bilaterally. The combination of agnathia and ocular malformation in the absence of holoprosencephaly is challenging to explain embryologically.