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Robert A. Del Pero, MD; Marilyn B. Mets, MD; Ramesh C. Tripathi, MD, PhD; Elise Torczynski, MD

Arch Ophthalmol. 1986;104(11):1659-1664.

Abstract
• 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 ettenuated, 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.

Author Affiliations
From the Department of Ophthalmology, The University of Chicago.

Footnotes
Accepted for publication Feb 7, 1986.

Reprint requests to The University of Chicago, Eye Research Laboratories, 939 E 57th St, Chicago, IL 60637 (Dr Mets).

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