Anomalies of Retinal Architecture in Aicardi Syndrome

Robert A. Del Pero, Marilyn B. Mets*, Ramesh C. Tripathi, Elise Torczynski

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1659-1664
Number of pages6
JournalArchives of ophthalmology
Issue number11
StatePublished - Nov 1986

ASJC Scopus subject areas

  • Ophthalmology

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