Date of Award

January 2018

Document Type


Degree Name

Medical Doctor (MD)



First Advisor

Jennifer A. Galvin


Goals and aims

The goal of this study is to assess the initial ophthalmic findings in children with Trisomy 21, also known as Down syndrome (DS). In addition, we assessed the effectiveness of current screening guidelines for ophthalmic care as well as patterns of outpatient visits and needed surgical procedures.


We identified patients with a diagnosis of DS who were examined at Yale Eye Center from 2013 to 2017. An electronic chart review was performed to collect initial ophthalmic exam findings. In addition, during this same 5-year period, all outpatient visits and surgeries were recorded for these patients.


Findings of the initial ophthalmic exam were determined for 49 patients. Patients had a mean age of 47.9 months (maximum 93 months, minimum 8 months, SD 23.9 months). There was a 63% prevalence of all ophthalmic manifestations in the children with DS. Of note, the findings affecting visual function in our patients: 16% with amblyopia, 16% with nasolacrimal duct obstruction, 10% with strabismus, 12% with nystagmus, and 2% with cataracts. Regarding strabismus, all patients had esotropia. There was no recorded exotropia or vertical strabismus. A trend of increased nystagmus with high refractive error was found, although not statistically significant. Rates of all ophthalmic manifestations were not significantly different at ages less than 6 months old versus over 6 months old. Follow-up time was found to be shorter in patients with diagnoses of amblyopia (4.2 months vs 9.6 months, Mann-Whitney U test, p = 0.0130), strabismus (2.5 months vs 9.4 months, Mann-Whitney U test, p = 0.0032), and nystagmus (4.5 months vs 9.3 months, Mann-Whitney U test, p = 0.0482) as compared to patients without these diagnoses at initial visit. However, for refractive error findings, the follow up was nearly equivalent, (8.0 months vs 9.3 months, Mann-Whitney U test, p = 0.3419). In our study, we also evaluated systemic illnesses which affect children with DS, such as heart disease and leukemia. Of note, we found no association between congenital heart disease and initial ophthalmic disease (right-tailed Fisher’s exact test, p = 0.7512).

Regarding specific anterior segment disease, none of our patients had keratoconus on initial exam. Furthermore, we did not identify a correlation between a specific ophthalmic disease and systemic disease in these children with DS.

Beyond the care in the ophthalmologist’s office, the most common outpatient appointments were in diagnostic radiology and general pediatrics. The most common surgeries in children with DS were ENT interventions for bilateral chronic mucoid and/or serous otitis media. The most common ophthalmic surgery in children with DS was nasolacrimal duct probing and in adults with DS was cataract surgery. Out of 234 total procedures, 32 were combined with one another to be performed in the same anesthesia event for the child. Of these 16 pairs, 14 pairs included one ENT procedure. Of note, only 2 procedures were performed within 1 month of each other, which were not combined.


Our findings of high refractive error and low percentage of cataracts is similar to previous studies whereas our findings of strabismus and amblyopia were higher than previously reported DS cohorts.

Patients with DS require care from a broad spectrum of subspecialty providers over a patient’s lifetime. Within the first 12 months of life, children with DS are assessed for ophthalmic disease, ENT disease, cardiac disease, hematologic disease, neurologic disease and possibly genetic evaluation. Regarding surgeries, combining procedures can be helpful for these children with DS and their families.


This thesis is restricted to Yale network users only. It will be made publicly available on 06/25/2100