EPOS

European Paediatric Ophthalmological Society

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AUTISM IN CONGENITALLY BLIND CHILDREN ? GENETIC OR ENVIRONMENTAL

Bitoun Pierre
¹CHU Paris Nord, Jean Verdier Hospital, BONDY 93143 france

Purpose:To study the mechanism and causes of autism in children with congential blindness , we need to understand if it is related to the ocular features or other clinical or genetic features of patients affected. Methods:We studied a series of patients with congenital blindness who developped autistic features according to the DSM V criteria. Complete clinical and dysmorphic evaluation as well as family history in patients with variable ocular disorders like dominant coloboma and microphthalmos, aniridia and optic nerve hypoplasia, microphthalmos and renal malformations were performed. The onset of dysorality or dysphasia and sleep cycle disturbances were also evaluated. Different genes were tested for mutation explaining the ocular syndromes. Results:No specific gene mutations involved in these patients series was found although some genetic hypotheses can be made. Conclusion: Genetic etiology is likely to be causative of autism in congenitally blind children .