Ophthalmic disorders and congenital cardiac disease in children with Down syndrome

Raffaella Morreale Bubella


Down’s syndrome (DS), one of the most frequent chromosomal anomalies, is associated with dysmorphic features, congenital malformations and intellectual disability. There are various clinical manifestations: congenital cardiac diseases are found in 40% of cases, gastrointestinal anomalies in 7% of cases, and intellectual disability can be present in a medium or serious form.  Both congenital cardiac diseases and ocular problems are particularly frequent, regarding both structure and function, such as refractive defects, accommodation, strabismus and cataract are particularly frequent.

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