The Ophthalmic Manifestations of Down Syndrome

Down Syndrome is one of the most common chromosomal conditions in the world, affecting an estimated 1:400-1:500 births. It is a multisystem genetic disorder but has a wide range of ophthalmic findings. These include strabismus, amblyopia, accommodation defects, refractive error, eyelid abnormalities, nasolacrimal duct obstruction, nystagmus, keratoconus, cataracts, retinal abnormalities, optic nerve abnormalities, and glaucoma. These ophthalmic conditions are more prevalent in children with Down Syndrome than the general pediatric population, and without exception, early identification with thoughtful screening in this patient population can drastically improve prognosis and/or quality of life.