Ophthalmological abnormalities in Down syndrome among Brazilian patients

Down syndrome is the most common chromosomal disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of visual disorders that, if left untreated, can negatively affect child development. The aim of this study was to determine the prevalence of ophthalmological findings among patients who attended an outpatient clinic for patients with Down syndrome in southern Brazil between 2005 and 2016. A cross-sectional study including 1,207 patients medical records were done, which 492 (40.8%) had some ophthalmological disorder. These data were subjected to descriptive analysis using Statistica software. Among the 492 patients with any ophthalmological disease, the need for glasses was found in 434 (36%) patients, keratoconus in 254 (42.1%), congenital cataract in 27 (15.1%), nasolacrimal duct obstruction in 25 (2.0%), strabismus in 22 (1.9%), nystagmus in four (0.3%), and juvenile cataract in two (0.2%). Two young adults with keratoconus underwent corneal transplantation. Although the prevalence of an ophthalmological disease among the present sample (40.8%) was lower than described in the current literature, it still reinforced the importance of routine and early evaluations in infants. These should begin at 6 months of age and be repeated half-year until 2 years old, annually until 7 years old, biennial in adolescents, and triennial in adults and elderly. Our findings of a high frequency of keratoconus support a detailed corneal study in such patients for early detection and treatment.