Singapore Med J 2006; 47(1) : 14 Abstract 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, Ocular findings in Malaysian children with Down syndrome Liza-Sharmini AT, Azlan ZN, Zilfalil BA Department of Ophthalmology School of Medical Sciences Universiti Sains Malaysia 16150 Kota Bharu Malaysia Liza-Sharmini AT, MBBS, MMed Ophthalmologist and Lecturer Human Genome Centre School of Medical Sciences Universiti Sains Malaysia Zilfalil BA, MBBS, MMed, MSc Director Eye Department, Hospital Kota Bharu 15586 Kota Bharu Malaysia Azlan ZN, MD, MMed Ophthalmologist Correspondence to: Dr Liza-Sharmini Ahmad Tajudin Tel: (60) 9 766 4585 Fax: (60) 9 765 3370 Email: liza@kb.usm.my 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. Keywords: Down syndrome, epicanthic fold, eye manifestations, nystagmus, ocular lesions Singapore Med J 2006; 47(1):14-19 INTRODUCTION In 1866, John Langdon Down described Down syndrome on the basis of an incorrect theory of racial regression (1) . He described these patients as having features similar to Mongol children but with European parentage. Evolution of medicine over the years has identified an abnormal chromosome composition responsible for their unique character (2) . Trisomy 21 was found to be the most common type followed by translocation and mosaicism. Most of the previous reports on the clinical features of Down syndrome have been on Caucasians. Reports on Asians with Down syndrome (3,4) showed different clinical features, especially in their ocular manifestations. Multiethnicity among Asians may further diverse the ocular manifestations of Down syndrome. The incidence of Down syndrome in one of the largest government hospital in Malaysia was 1:959 (5) . The highest incidence was reported among the Malays 1:981, followed by the Chinese 1:940 and Indians 1:860. Our hospital-based incidence was lower compared to the Western population. However, no previous observation on the ocular manifestations has been documented on Down syndrome children in Malaysia. Kelantan is a state situated at the northeast of Malaysia, bordering Thailand, and the majority of local populations are Malays. Hospital Universiti Sains Malaysia and Hospital Kota Bharu are two tertiary centres for the state. The objective Original Article