Ophthalmological manifestations in Down's syndrome

The aim of this paper is to present the most frequent and most important ocular findings in children with Down's syndrome and to indicate major indications for their follow-up. Down's syndrome (trisomy 21) as the most frequent cause of mental retardation is often associated with a large number of eye and orbital anomalies. Many published papers have mentioned ophthalmologic signs and symptoms that could be more or less frequently encountered in patients with Down's syndrome. Frequently the ophthalmologic examination alone can raise the suspicion of the presence of trisomy 21, which is often confirmed by cytogenetic examination. The most frequent ocular findings are hypertelorism, epicanthus, obstruction of the lacrimal ducts or their infection, strabismus, refractive anomalies, keratoconus, cataract, Brushfield spots, and supernumerary blood vessels on the optic disc. The clinical finding of Brushfield spots and supernumerary blood vessels in the newborn child requires karyotype examination which not only serves for diagnosing but also to give the right information to parents for their future procreation. Due to the great number of possible ocular abnormalities in the affected children it is recommended to perform the first ophthalmologic examination within first six months after birth and afterwards follow-up should be done yearly.