Down syndrome and the eye: Ocular characteristics and ocular assessment

The trisomy of chromosome 21, the smallest autosome, is associated with significant sys-temic manifestations in addition to intellectual disability. The triplication of this chromo-some, known as Down syndrome (DS) is also associated with several manifestations in the eye, and ocular adnexae. People with DS have a variety of ophthalmic conditions, some of which require intervention. The variable systemic and ophthalmic presentations in DS can make the delivery of eye care challenging. We highlight common ophthalmic presentations in people with DS, as well as the practical implications of delivering eye examinations for this complex needs population. We aim to aid clinicians involved in the ophthalmic care of people with DS in both clinical and research settings.(c) 2022 Elsevier Inc. All rights reserved.

Automated summary

Down syndrome, a trisomy of chromosome 21, is associated with systemic manifestations as well as various ocular presentations. The diverse ophthalmic conditions in individuals with DS make eye care challenging.