Ocular manifestations of the Smith-Lemli-Opitz syndrome
F. L. Kretzer, H. M. Hittner and R. S. Mehta
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.
