Ophthalmological abnormalities in Down syndrome among Brazilian patients

Abstract

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.

Prevalence of Keratoconus in Persons With Down Syndrome in a National Registry in Norway

“…Knowledge is limited concerning the cause of keratoconus and also concerning its association with Down syndrome. 2 , 3 One proposed link is a collagen-related abnormality; in addition, some research has suggested that Down syndrome is associated with greater frequency of eye rubbing and possibly with more atopy. 2 , 4 , 6 Other researchers have speculated about whether keratoconus is linked to chromosome 21.…”

“…Keratoconus was previously considered rare; however, in recent studies, a prevalence of 0.2% to 0.3% has been reported 1 and, in some studies, an even higher prevalence. An association of keratoconus with Down syndrome has been shown, 2 , 3 although the exact reason remains unknown. In some studies, investigators have reported frequencies of keratoconus in persons with Down syndrome of 0% to 71% 2 , 3 , 4 , 5 ; however, most have been limited by small sample sizes and biased patient selection.…”

“…An association of keratoconus with Down syndrome has been shown, 2 , 3 although the exact reason remains unknown. In some studies, investigators have reported frequencies of keratoconus in persons with Down syndrome of 0% to 71% 2 , 3 , 4 , 5 ; however, most have been limited by small sample sizes and biased patient selection. The aim of the present study was to estimate the prevalence of keratoconus among persons with Down syndrome in Norway.…”

Prevalence of keratoconus in persons with Down syndrome: a review

“…[17][18][19] Our literature search identified several studies that have reported increased rates in this population-in one study as high as 71%. 31 However, previous studies vary greatly; furthermore, their estimates have primarily been based on small sample sizes and often on selected hospital populations or children. 13 15 16 18-30 Only one study reported nationwide numbers, estimating a keratoconus prevalence of 5.5% among persons with Down syndrome.…”

Clinical and genetic findings in patients with congenital cataract and heart diseases

“…About half of patients with Down’s syndrome are born with CHD. Ophthalmological abnormalities, including CC, are frequently found in patients with Down syndrome [ 29 ]. 21q11.2-q22.3 duplication detected in patient 1 overlaps with the Down syndrome critical region on chromosome 21 which contains the major genes responsible for the disease's pathogenesis [ 30 ].…”