Reply to Bianca et al

Sir, The letter of Bianca et al1 has shed light into the association between nystagmus, cataract, or myopia and congenital heart disease (especially atrial septal defect) in the context of Down's syndrome. Nystagmus was detected in 30% of Down's syndrome.2 da Cunha et al3 found myopia to be associated with congenital heart disease in Down's syndrome, while Bromham4 found heart defects in Down's syndrome to be associated with myopia and nystagmus. The series that we described had a small number of Down's syndrome (17 cases) and were examined at a very young age, and many had poor oxygen saturation at the time of the eye examination. Ocular findings increase with age, and because of the cross-sectional nature of the study, we found a low percentage of ocular findings: two had congenital cataract and one had congenital nystagmus among the 17 subjects with Down's syndrome. The high percentage of congenital cataract in Down's syndrome (12%) confirms to the findings of Bianca et al.1 We analysed the cases of isolated atrial septal defect and found negative eye examination in 14 subjects (including three with velocardiofacial syndrome), ptosis (one subject), and congenital cataract (one subject). It is possible that congenital cataract is associated with atrial septal defect as suggested by Bianca et al.1 We thank Bianca et al for their theory of susceptibility genes for atrial septal defect or other cardiac anomalies and cataract or other eye anomalies that may be contiguous or reciprocally influenced. Larger epidemiological studies than ours can help elucidate these associations.