Ophthalmic Manifestations in Down’s syndrome

Abstract

Purpose: To review the clinically significant ophthalmologic manifestations in individuals with Down’s syndrome.

Material and Methods: Classic review of the literature in different scientific databases, using the MeSH words "Down's syndrome", "Down syndrome", "ocular manifestations", "ophthalmic manifestations", "trisomy 21". The articles were selected in the English and Portuguese languages, published since the year 2000.

Results: Ophthalmic disorders are extraordinarily prevalent in individuals with Down’s syndrome. The most consistent ocular finding is the presence of a prominent epicanthic fold. In children, the prevailing ocular findings are refractive errors, hyperopia and astigmatism being the most common ones; and strabismus, mainly in the form of esotropias. For the adults, cataracts are the leading cause of ophthalmologic disorders. Blepharitis and conjunctivitis are also a very common condition in these patients. Keratoconus and Brushfield spots were described are being frequent in this population; however they do not seem to be as common as related in older studies.

Conclusions: Individuals with Down’s syndrome are at a greater risk of visual impairment; hence, ophthalmologic evaluation must be included in their routine medical care. A delay in the diagnosis and treatment of these disorders can lead to visual impairment and adversely affect their quality of life. Therefore, early detection should be emphasized near the family physicians and the pediatricians, to improve developmental and functional outcomes for children and adults with Down’s syndrome.

Keywords: Down’s syndrome, ophthalmic disorders, quality of life, early detection