• Sebastian Sirek, Erita Filipek, Bogumiła Wójcik-Niklewska, Dorota Pojda-Wilczek, and Ewa Mrukwa-Kominek.
• Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.
• Medicine (Baltimore). 2022 Dec 9; 101 (49): e31950e31950.

RationaleAicardi syndrome is a genetic malformation syndrome with a triad of dysgenesis or agenesis of the corpus callosum, distinctive chorioretinal lacunae and infantile spasms. It is a rare developmental disorder first described in 1965. The disease affects 1 in 100,000 live births.Patient ConcernsWe describe a 34-month-old girl diagnosed with Aicardi Syndrome.DiagnosisBased on the results of color images of the fundus, medical history as well as the analysis of karyotype and DNA microarrays, the patient was diagnosed with Aicardi's syndrome.InterventionsAdditionally an B-scan ultrasonography and an electrophysiological test was performed.OutcomeFundoscopic examination revealed optic disc colobomas in both eyes, extensive chorioretinal lacunae at the posterior pole with retinal pigment epithelium regrouping and atrophy. Flash visual evoked potentials (FVEP) P2 amplitude was lower than normal range. B-scan ultrasonography revealed an optic disc lesion consistent with optic disk coloboma.LessonsChildren with congenital central nervous system malformations should undergo regular ophthalmic checkups to facilitate diagnosis and determine prognosis of visual function development.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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