Objective Aicardi syndrome (AS), is a sporadic rare cerebro-ocular disorder that affects primarily females. It consists of cerebral manifestation including agenesis of the of the corpus callosum, seizures, and mental retardation. Ocular abnormalities include chorioretinal lacunae and microphthalmia. Corneal opacities have not been reported with this syndrome. The aim of this paper is to report. The novel occurrence of corneal opacity in association with first case of Aicardi syndrome in the Arab world.

Method An 18 month old girl with bilateral microphthalmia and developmental delay was referred because her mother has become pregnant and there was fear of birth of another abnormal child.

Result The girl has significant growth retardation with all of her growth parameters below the third centiles. She looked active and was smiling frequently despite serious visual impairment. She cannot speak yet. She was able to sit up from the supine position but was unable to stand. She has microcephaly (head circumference 32 cm), bilateral microphalmia and bilateral corneal opacities, and microphamia. Serological tests for congenital rubella, cytomegalovirus, and toxoplasmosis were negative. She has normal female karyotype. Ultrasound of the eyes showed echogenic anterior segment, vitereal haziness and opacity. CT-scan of the brain showed prominent cistern magna, bilateral cerebral atrophy and agenesis of the corpus callosum. Abdominal ultrasound revealed normal findings.

Conclusion The novel occurrence of corneal opacity in association with the first case of AS in the Arab world is reported.