Down syndrome and the eye: Ocular characteristics and ocular assessment.

The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of this chromosome, known as Down syndrome (DS) is also associated with several manifestations in the eye, and ocular adnexae. People with DS have a variety of ophthalmic conditions, some of which require intervention. The variable systemic and ophthalmic presentations in DS can make the delivery of eye care challenging. We highlight common ophthalmic presentations in people with DS, as well as the practical implications of delivering eye examinations for this complex needs population. We aim to aid clinicians involved in the ophthalmic care of people with DS in both clinical and research settings.

Prospective observational study of universal newborn eye screening in a hospital and community setting in New Zealand.

OBJECTIVE: Early detection of ocular abnormalities in newborn infants is essential for timely diagnosis and treatment. This study aimed to assess wide-field digital imaging for universal newborn eye screening (UNES) to determine the prevalence of ocular abnormalities, including retinal haemorrhages, in newborn infants in New Zealand. DESIGN: Prospective ocular screening study of infants. SETTING: A public hospital maternity ward and a community birth centre in Auckland, New Zealand. PATIENTS: A total of 350 infants were enrolled in UNES, those with birth weight <1250 g or gestational age <30 weeks were excluded. METHODS: Wide-field digital images of the external eye and retina were captured by RetCam (Natus Medical, San Carlos, California, USA) and reviewed by an ophthalmologist via an established telemedicine methodology. MAIN OUTCOME MEASURES: Detection of ocular abnormalities, including retinal haemorrhages. Correlation between haemorrhages and maternal, obstetric and neonatal factors. RESULTS: A total of 346 infants completed screening (median age 2 days). Retinal haemorrhages were present in 50 cases (14.5%), two cases exhibited persistent retinal haemorrhages at 6-week follow-up. A significant increase in the odds of retinal haemorrhages was present for vaginal delivery compared with caesarean section. Other ocular abnormalities, including congenital cataract and optic nerve hypoplasia, were present in 1.4% of infants. CONCLUSIONS: Ocular abnormalities were detected by UNES including congenital cataract and optic nerve hypoplasia. However, retinal haemorrhages, significantly associated with delivery modality, were the most common abnormality detected. The majority of retinal haemorrhages resolved spontaneously.