Ocular manifestations of the Smith-Lemli-Opitz syndrome

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 localized mitochondrial disintegration is restricted to the corneal endothelium and retinal pigment epithelium and is an important element in the etiology. All children who fail to thrive with vomiting, are mentally deficient, have anteverted nostrils, broad maxillary alveolar ridges, syndactyly of the second and third toes, and ambiguous genitalia should be carefully screened for incipient corneal endothelial changes, mild cataracts, and peripheral retinal changes.