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Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome

Aarushi Jain, Natalie K. Boyd, Kelli C. Paulsen, Benjamin N. Vogel, Lina Nguyen, Jonathan D. Santoro

American journal of medical genetics. Part C, Seminars in medical genetics(2023)

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Abstract
Down syndrome, also known as Trisomy 21, is a genetic disorder associated with mild-to-moderate intellectual disability, delays in growth, and characteristic facial features. A wide range of ocular complications are seen in children with Down syndrome, including strabismus, nystagmus, refractive errors, congenital cataracts, the presence of keratoconus, and decreased visual acuity. Early ophthalmic examination is needed for early diagnosis and treatment in patients. This narrative review examines ocular manifestations in children with Down syndrome and the importance of prompt ophthalmic interventions for treatment.
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Key words
Down syndrome,neuro-ophthalmology,ophthalmology,pediatric,trisomy 21
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