The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformations

Editor,—Aicardi syndrome (OMIM 304050), a rare genetic disorder of cerebro-ocular development, is characterised by infantile spasms, psychomotor retardation, agenesis of corpus callosum, and lacunar chorio- retinopathy.1 We present an infant girl with Aicardi syndrome. In addition to chorioretinal lacunae, ophthalmic examination revealed microphthalmos, persistent pupillary membrane, posterior synechiae, posterior polar cataract, optic nerve malformation, and epipapillary and epiretinal gliosis. We believe that all these ocular anomalies other than the chorioretinal lacunae, are manifestations of persisting fetal blood vessels and should, therefore, be referred to as “persistent fetal vasculature”.  We discuss the ocular manifestations of Aicardi syndrome and their embryogenesis. We also attempt to link the ocular malformations with those of the brain. ### CASE REPORT A 22 day old baby girl was referred for evaluation of microphthalmos. She was the eighth child born to non-consanguineous parents and was delivered at term by caesarean section. There was no family history of neurological or eye disease. The baby was microcephalic (head circumference 30 cm), but did not have any facial dysmorphism. Neurological examination was unremarkable. On ophthalmic examination, the right eye was found to be microphthalmic with a horizontal corneal diameter of 8 mm. The pupil was irregular with posterior synechiae and persistent pupillary membrane (Fig 1), and the lens had a small, paraxial dot opacity on the posterior surface. Funduscopy revealed a large dysplastic disc with an eccentric coloboma. Glial tissue spread out nasally in a fan-shaped manner along the retinal surface, from the centre of the disc all the way to the ora serrata and posterior surface of the lens. The macula was partially covered …