Intracerebral retina-like pigmented tissue in a stillborn fetus with holoprosencephaly

A stillbirth fetus with semilobar holoprosencephaly was induced at 24 weeks gestational age. While the eyes appeared unremarkable externally, there was an absence of optic nerves. At the ventral hypothalamicdiencephalic region there was an area of bilateral epithelioid cells containing melanin. Immunohistochemical characterization revealed the cells to be of neuroepithelial origin with features of retinal pigment epithelium. These findings reflect abnormalities in eye development in holoprosencephaly, especially when coupled with other structural defects in the visual system.