A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied in children and adolescents with Down syndrome but less often in older adults. In-depth review of medical records of older adults with Down syndrome indicated that ophthalmic disorders were common. Cataracts were the most frequent ophthalmic disorder reported, followed by refractive errors, strabismus, and presbyopia. Severity of intellectual disability was unrelated to the presence of ophthalmic disorders. Also, ophthalmic disorders were associated with lower vision-dependent functional and cognitive abilities, although not to the extent that was expected. The high prevalence of ophthalmic disorders highlights the need for periodic evaluations and individualized treatment plans for adults with Down syndrome, in general, but especially when concerns are identified. 1. Ophthalmic Disorders in Adults with Down Syndrome Down syndrome is the most prevalent genetic disorder associated with intellectual disability and is due to the presence of complete or partial triplication of chromosome 21 [1]. It is associated with a characteristic physical and cognitive phenotype, although almost every aspect of the phenotype shows variability in terms of occurrence and severity [2, 3]. Down syndrome carries with it an increased risk of congenital heart defects, hearing loss, autoimmune diseases, shortened life expectancy, early onset Alzheimer’s disease, and other concerns related to health and aging that also include multiple ophthalmic disorders [4–7]. Earlier studies have indicated increased risk for abnormality in virtually all structures of the eye including the lid, iris, cornea, lens, and retina [8–11]. As a consequence, nystagmus, strabismus, keratoconus, amblyopia, cataracts, and refractive errors are prevalent in this population potentially resulting in significant visual impairment [12, 13] (see Appendix for brief definitions of italicized terms). While no specific ophthalmic disorder seems to be pathognomonic of Down syndrome, many individuals present with a combination of conditions [12, 14]. The ophthalmic sequelae in children and adolescents with Down syndrome have received considerable attention [12, 15–18], but the prevalence of vision problems in older adults has been reported less often. The life expectancy of adults with Down syndrome has increased dramatically over the last several decades [19, 20] and as a
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