Ocular findings in Down's syndrome

R P da Cunha1, J B Moreira

  • 1Department of Ophthalmology, Paulista School of Medicine, Federal University of São Paulo, Brazil.

Insights

Children with Down syndrome commonly experience ocular issues like upward slanting palpebral fissures and epicanthal folds. Early detection of these visual impairments is crucial for effective treatment and minimizing developmental handicaps.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Down syndrome is a genetic disorder associated with various health complications.
  • Ocular abnormalities are frequently observed in pediatric patients with Down syndrome, impacting visual development.

Purpose of the Study:

  • To determine the prevalence and types of ocular findings in children diagnosed with Down syndrome.
  • To identify common visual impairments requiring early intervention in this population.

Main Methods:

  • A prospective study involving 152 pediatric patients with Down syndrome (ages 2 months to 18 years).
  • Comprehensive ocular examinations included visual acuity assessment (using Teller acuity cards), slit-lamp biomicroscopy, motility, retinoscopy, and ophthalmoscopy.

Main Results:

  • The most prevalent ocular findings were upward slanting palpebral fissures (82%) and epicanthal folds (61%).
  • Other common conditions included astigmatism (60%), iris abnormalities (52%), strabismus (38%), and refractive errors like hyperopia and myopia.
  • Age-specific prevalence varied, with younger children showing more hyperopia and older children more iris abnormalities and strabismus. Myopia was more common in those with cardiac defects.

Conclusions:

  • Early diagnosis of ocular abnormalities in Down syndrome patients is essential.
  • Utilizing tools like Teller acuity cards aids in timely detection and management of refractive errors, strabismus, and amblyopia.
  • Prompt treatment can significantly minimize visual-related handicaps in children with Down syndrome.
Abstract

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