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Ocular features in Aicardi syndrome

Poster Details


First Author: E.Mrukwa-Kominek POLAND

Co Author(s): S. Sirek   E. Filipek   B. Wojcik-Niklewska   M. Janeczko   D. Pojda-Wwilczek        

Abstract Details

Purpose:

The aim of this report is to present a child with ocular features characteristic of Aicardi syndrome. Aicardi syndrome is a genetic malformation syndrome with a triad of dysgenesis or agenesis of the corpus callosum, distinctive chorioretinal lacunae and infantile spasmsAccording to current knowledge this is one of the few descriptions of ocular features in Aicardi syndrome described in the literature in the world.

Setting:

1 Department of Ophtalmology, Medical University of Silesia, Katowice, Poland2 2 Department of Ophthalmology for Adults, University Clinical Center of the MedicalUniversity of Silesia, Katowice, Poland3 Department of Pediatric Ophtalmology, Medical University of Silesia, Katowice, Poland4Department of Medical Genetics, Chair of Pediatrics, Jagiellonian University, Collegium Medicum, Kraków, Poland

Methods:

A 34-month-old girl born in the 42 week of pregnancy with congenital abnormalities of the central nervous system (holoprosencephaly, schizencephaly, polymicrogyria, agenesis of corpus callosum), epilepsy and ocular fundus lesions. Full genetic analysis was performed.Ophthalmic examination was performed under general anaesthesia and included B-scan ultrasonography and an electrophysiological test.

Results:

Fundoscopic examination revealed optic disc colobomas in both eyes, extensive chorioretinal lacunae at the posterior pole with retinal pigment epithelium regrouping, peripheral retinal pigment epithelium atrophy and retinal vessel narrowing. Flash - VEP P2 component latency was normal. The P2 amplitude recorded from the right hemisphere was attenuated to 50% of the normal range while the amplitude from the left hemisphere was near zero which might be indicative of optic nerve atrophy. B-scan ultrasonography revealed an optic disc lesion consistent with optic disk coloboma.

Conclusions:

Children with congenital CNS malformations should undergo regular ophthalmic checkups to facilitate diagnosis and determine prognosis of visual function development.

Financial Disclosure:

None

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