Ophthalmic manifestations of mosaic Down syndrome

The cognitive and physical stigmata of mosaic Down syndrome (DS) are often considered to be less severe than complete trisomy-21 DS. In contrast to complete trisomy-21 DS, the ophthalmic manifestations in mosaic DS have rarely been reported. The aim of the present study is to report clinically significant ophthalmic abnormalities in a cohort of individuals with mosaic DS.

A prospective cross-sectional observational case series was designed to evaluate ophthalmic manifestations of mosaic DS. Individuals with mosaic DS were recruited and examined at the biennial meeting of the International Mosaic Down Syndrome Association. A medical, surgical, and ocular history was obtained. Each subject received a complete eye examination on site, including assessment of visual acuity, alignment, motility, sensory function, accommodation, anterior segment, fundus, and cycloplegic refraction.

Seventeen individuals with mosaic DS (mean age, 9 years; range, 6 months to 32 years) underwent eye examinations. Clinically significant refractive errors were present in 41% of the subjects, accommodative insufficiency in 59%, strabismus in 35%, nystagmus in 6%, and cataract in 6%. Ten individuals completed optotype visual acuity testing. Mean LogMAR acuity of the better eye of each subject was 0.2 (20/32 equivalent).

Clinically significant ophthalmic disorders are common among children and young adults with mosaic DS. Our findings support regular periodic eye examinations for these individuals.