Prevalence of Ophthalmic Pathology in Children with Trisomy 21; A 5-Year Retrospective Review
Collin Hair, MD; Sean Donahue, MD, PhD; David G. Morrison, MD; Nancy Benegas, MD; Meghan Flemmons, MD; Anvesh Reddy, MD
Vanderbilt Eye Institute
Introduction: The American Academy of Pediatrics (AAP) recommends an ophthalmologic exam within the first 6 months of life, then yearly until age 5, in Down Syndrome. Data to support this recommendation are scarce and automated vision screening has forced its re-evaluation.
Methods: A retrospective chart review of over 700 children with Trisomy 21 seen by the pediatric ophthalmology service at Vanderbilt University from August 2012 to 2017. Charts were reviewed for visual acuity, sensorimotor examination, cycloplegic refraction, prescription of glasses, and ophthalmic, medical, and surgical history. AAPOS guidelines were used to define amblyogenic risk factors (manifest strabismus, cataract, refractive error).
Results: The charts of 705 children were reviewed. Average age of encounter reviewed was 7.0 +/- 4.8 years, 56% male. 377 (53.5%) children had a meaningful finding noted by the provider. Based on AAPOS guidelines, 460 (65.3%) had at least one amblyopia risk factor. Significant refractive errors were found in 23% (age 0-3, N=192) and 60% (age > 3, N=513). 253 (36%) had strabismus (15.9% required surgery). Esotropia accounted for 84.6%, exotropia 12% and superior oblique palsy 7%. Accommodative esotropia was most common (30.4% of all strabismus). Cataract prevalence was 5.7% (N=40, 74% bilateral) but only 41% required surgery. Nystagmus prevalence was 13.3% (N=94).
Discussion: The prevalence of amblyogenic risk factors in Down Syndrome was similar to those quoted by 2011 AAP guidelines (vision problems 60%, cataracts 15% and refractive error 50%).
Conclusion: Screening exams in Down Syndrome are warranted as automated screening devices would need to refer >65% of patients based on our data.
References: Bull et al. ‘Clinical Report – Health Supervision for Children with Down Syndrome.’ Pediatrics 2011;128(2).