Introduction: Down syndrome was first described as Mongoloid children with European parentage. Although their facial features resemble Orientals or Asians, ocular findings have not been well-documented in Asians, especially Malaysians. Our aim was to identify the ocular findings of Malaysian children with Down syndrome.
Methods: A total of 60 children with Down syndrome, aged between one month and 17 years, were examined for ocular findings from January 1995 to January 2004. Ocular examination, which includes visual acuity assessment, slit lamp biomicroscopy, ocular motility, cycloplegic refraction and ophthalmoscopy were performed whenever possible.
Results: The ocular findings include epicanthic fold in 96.7 percent (58), nystagmus in 33.3 percent (20), and strabismus in 26.7 percent (16) of children with Down syndrome, all of whom were esotropic. Other findings were bilateral congenital cataract in 13.3 percent (8), blepharoconjunctivitis in 10.0 percent (6), eyelid abnormalities in 6.7 percent (4), glaucoma in 6.7 percent (4), nasolacrimal duct obstruction in 3.3 percent (2), bilateral retinoblastoma in 1.7 percent (1), bilateral retinal detachment in 1.7 percent (1), and chronic uveitis in 1.7 percent (1) of children. Visual assessment showed that 47.3 percent of patients achieved good vision (6/12 to 6/6). Cycloplegic refraction was done in 24 patients (41.7 percent). Out of the 24 patients, 29.2 percent (7) were myopic, 25.0 percent (6) were hyperopic, and astigmatism was observed in 8.3 percent (2).
Conclusion: Malaysian children with Down syndrome demonstrated high incidences of epicanthic fold, nystagmus, and strabismus, and absence of Brushfield spots or keratoconus, which are in contrast to the ocular findings in Caucasian patients with Down syndrome. Rare ocular findings, such as bilateral retinoblastoma and retinal detachment, were also observed but their association with Down syndrome is not well-established.