Anomalies of retinal architecture in Aicardi syndrome
R. A. Del Pero, M. B. Mets, R. C. Tripathi and E. Torczynski
Eyes obtained at autopsy from a female infant with Aicardi syndrome
(chorioretinal lacunae, agenesis of the corpus callosum, and seizures) were
studied by light and electron microscopy. The retinal insertion was
displaced anteriorly over the ciliary body, the choroid was attenuated, and
the retinal pigment epithelium showed hyperplasia and pigment migration
throughout the sensory retina. Rosettes of photoreceptorlike cells and
inversion of the photoreceptor layer were found. A hole within a lacuna
showed total absence of the sensory retina. Optic disc epipapillary tissue
consisted of glial and fibrous elements with a vascular core. The mechanism
of photoreceptor folding is considered. The continuity of the external
limiting membrane with the retinal pigment epithelium at sites of
photoreceptor folding seen in our case suggests defective early
development.
