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Assessment of Interpupillary Distance in a Racially/Ethnically Diverse Pediatric Sample from Electronic Health Record Data

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Anthropometric measurements are an important part of the dysmorphology evaluation routinely performed by clinical geneticists. Relating a patient’s ocular measurements to the general population allows clinicians to identify hyper- or hypotelorism on physical exam, aiding in diagnosis and management. Unfortunately, existing normal value charts for inner canthal distance, outer canthal distance, and interpupillary distance are suboptimal due to a lack of computability, a lack of racial and ethnic diversity, a lack of charts that extend into adulthood, and systematic errors. Here, we analyze ocular distance measurements in a large racially and ethnically diverse sample.

 

Methods:
We extracted ocular distance measurements from the Electronic Health Record for 11,362 patients referred to clinical genetics at one large academic medical center between 2012 and 2022. To reduce bias, we excluded patients with underlying genetic diagnoses, those with microcephaly or macrocephaly, and those with other ocular disorders, leaving 4,819 observations. A subset of this data was used to generate new nomograms, which we validated using measurements obtained from an independent population (312 head CTs obtained as part of a traumatic injury evaluation in the emergency department). We performed mixed effects regression analysis to assess clinical features affecting measurements.

 

Results:
Sex and patient/family reported race/ethnicity are significantly associated with interpupillary distance. Comparing measurements to contemporaneously obtained measurements from head CTs, we find that among historical methods for relating inner and outer canthal distance to interpupillary distance, Pryor’s method performs best. Using data from 1,440 children, we provide updated sex-stratified nomograms for inner canthal distance, outer canthal distance, and interpupillary distance derived from a racially and ethnically diverse sample ranging from birth to 18 years of age.

Conclusion:
Our results confirm drawbacks of historically accumulated reference values for ocular distance measurements and suggest that existing nomograms may overestimate hypertelorism in Hispanic/Latino and non-Hispanic Black children. A prospective large multi-ethnic study of inner canthal distance, outer canthal distance, and interpupillary distance in healthy children should be undertaken to validate our findings.

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