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Published on: December 7, 2018
Characteristic ocular findings in Asian children with Down syndrome
1Department of Ophthalmology, College of Medicine, Seoul National University & Clinical Research Institute Seoul National University Hospital, Seoul, Korea.
Insights
Ocular findings in Asian children with Down syndrome include high rates of epiblepharon and exotropia, unlike Caucasian patients. Brushfield spots were notably absent in this population.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Down syndrome is a genetic disorder associated with various health issues, including ocular abnormalities.
- Previous research has primarily focused on ocular findings in Caucasian populations with Down syndrome.
Purpose of the Study:
- To characterize the specific ocular findings in a cohort of Asian children diagnosed with Down syndrome.
- To compare these findings with those reported in other ethnic groups.
Main Methods:
- A cross-sectional study involving 123 Korean children (6 months to 14 years) with Down syndrome.
- Comprehensive ophthalmic examinations were conducted, including visual acuity, slit-lamp biomicroscopy, motility, refraction, and funduscopy.
Main Results:
- The most prevalent findings were upward slanting palpebral fissures (63%), epicanthus (61%), and epiblepharon (54%).
- Refractive errors such as astigmatism (31%), hyperopia (28%), and myopia (25%) were common. Strabismus (25%) and nystagmus (22%) were also significant.
- Notably, Brushfield spots and keratoconus were not observed, and the incidence of epiblepharon and exotropia was high.
Conclusions:
- Asian children with Down syndrome exhibit a distinct pattern of ocular findings, including a high prevalence of epiblepharon and exotropia.
- The absence of Brushfield spots contrasts with findings in Caucasian children with Down syndrome, highlighting ethnic variations.
- These findings underscore the importance of tailored ophthalmic screening protocols for diverse pediatric populations with Down syndrome.
Aims/Purpose:
To identify the characteristic ocular findings in Asian children with Down syndrome.
Methods:
A total of 123 Korean children with Down's syndrome between 6 months and 14 years of age were examined for ocular findings from March 1999 to April 2000. Ocular examinations including visual acuity assessment, slit-lamp biomicroscopy, ocular motility, cycloplegic refraction, and ophthalmoscopy were performed.
Results:
The ocular findings in decreasing prevalence were the following: upward slanting of the palpebral fissure (78 patients, 63%), epicanthus (75 patients, 61%), epiblepharon (66 patients, 54%), astigmatism (38 patients, 31%), hyperopia (35 patients, 28%), myopia (31 patients, 25%), strabismus (31 patients, 25%, 18 esotropia and 13 exotropia), nystagmus (27 patients, 22%), nasolacrimal duct obstruction (21 patients, 17%), blepharoconjunctivitis (20 patients, 16%), retinal abnormalities (18 patients, 15%), cataract (four patients, 13%), and glaucoma (one patient, 0.8%). Brushfield spots and keratoconus were not found.
Conclusions:
Asian children with Down syndrome demonstrate unreported, high incidence of epiblepharon, the high rate of exotropia, and essentially no notable Brushfield spots, which are in contrast to the ocular findings in Caucasian patients with Down syndrome.
