Down syndrome: a review of ocular manifestations

Abstract

Down syndrome is the most common genetically mediated intellectual disability. Although many physiologic and pathologic features of Down syndrome are discussed at length in the literature, the ocular manifestations of Down syndrome have seldom been discussed in a comprehensive fashion. Given that Down syndrome has ocular manifestations from the front to the back of the eye, it is important for physicians to become familiar with these manifestations, especially given the prevalence of Down syndrome. This review aims to discuss the varied ophthalmologic manifestations of Down syndrome – including strabismus, amblyopia, nystagmus, accommodation deficits, nasolacrimal duct obstruction, keratoconus, optic nerve pathology, neoplastic disease, and retinal pathology – to facilitate better care and visual outcomes in this important patient population.