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Ocular findings in Malaysian children with Down syndrome
A T Liza-Sharmini1, Z N Azlan, B A Zilfalil
1Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kota Bharu, Malaysia. liza@kb.usm.my
Insights
Malaysian children with Down syndrome frequently exhibit epicanthic folds, nystagmus, and strabismus. These ocular findings differ from those in Caucasian patients, highlighting unique ethnic variations in Down syndrome presentation.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Down syndrome, historically termed Mongoloid, presents with distinct facial features.
- Ocular manifestations in Asian populations, particularly Malaysians with Down syndrome, are under-documented.
- This study addresses the need for detailed ocular findings in Malaysian children with Down syndrome.
Purpose of the Study:
- To identify and document the spectrum of ocular findings in Malaysian children diagnosed with Down syndrome.
- To compare these findings with those reported in Caucasian populations.
- To contribute to a better understanding of Down syndrome's ophthalmic characteristics across different ethnicities.
Main Methods:
- A cohort of 60 Malaysian children with Down syndrome (age 1 month–17 years) was studied.
- Comprehensive ocular examinations included visual acuity, slit lamp biomicroscopy, motility, cycloplegic refraction, and ophthalmoscopy.
- Data were collected prospectively from January 1995 to January 2004.
Main Results:
- High prevalence of epicanthic fold (96.7%), nystagmus (33.3%), and esotropic strabismus (26.7%).
- Other observed findings included congenital cataract (13.3%), blepharoconjunctivitis (10.0%), glaucoma (6.7%), and rare cases of retinoblastoma and retinal detachment.
- Refractive errors showed myopia (29.2%), hyperopia (25.0%), and astigmatism (8.3%) among examined patients.
Conclusions:
- Malaysian children with Down syndrome exhibit a high incidence of epicanthic folds, nystagmus, and strabismus.
- Absence of Brushfield spots and keratoconus contrasts with Caucasian Down syndrome cohorts.
- Rare but significant findings like retinoblastoma warrant continued surveillance and research into ethnic-specific Down syndrome ocular profiles.
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.
