Ocular manifestations of the Smith-Lemli-Opitz syndrome
FL Kretzer, HM Hittner, RS Mehta - Archives of Ophthalmology, 1981 - jamanetwork.com
• To our knowledge, this article describes the first ocular histopathologic condition of a Smith-
Lemli-Opitz proband, despite almost 60 clinical histories that exist in the literature. The sole
retinal abnormality in this 1-month-old infant with congenital bilateral cataracts is the
extensive dropout of peripheral ganglion axons with incipient optic nerve demyelination.
Unusual amorphous cytoplasmic masses that are continuous with photoreceptor discs are
prominent aspects of the peripheral subretinal space. The morphological data imply that the …
Lemli-Opitz proband, despite almost 60 clinical histories that exist in the literature. The sole
retinal abnormality in this 1-month-old infant with congenital bilateral cataracts is the
extensive dropout of peripheral ganglion axons with incipient optic nerve demyelination.
Unusual amorphous cytoplasmic masses that are continuous with photoreceptor discs are
prominent aspects of the peripheral subretinal space. The morphological data imply that the …
