Ocular measurements in fetal alcohol spectrum disorders

• Published in: American journal of medical genetics. Part A 2020-10, Vol.182 (10), p.2243-2252
• Main Authors: Gomez, Diego A., May, Philip A., Tabachnick, Barbara G., Hasken, Julie M., Lyden, Elizabeth R., Kalberg, Wendy O., Hoyme, H. Eugene, Manning, Melanie A., Adam, Margaret P., Robinson, Luther K., Jones, Kenneth Lyons, Buckley, David, Abdul‐Rahman, Omar A.
• Format: Article
• Language: English
• Subjects: Alcohol Drinking - adverse effects; Alcohol Drinking - epidemiology; Alcohol Drinking - genetics; Animal models; Animals; Child; Children; Epidemiology; Eye - metabolism; Eye - pathology; Face - pathology; Female; Fetal Alcohol Spectrum Disorders - epidemiology; Fetal Alcohol Spectrum Disorders - etiology; Fetal Alcohol Spectrum Disorders - genetics; Fetal Alcohol Spectrum Disorders - pathology; Fetal alcohol syndrome; Humans; Male; Maternal-Fetal Exchange - genetics; Microcephaly - chemically induced; Microcephaly - epidemiology; Microcephaly - genetics; Microencephaly; Neural crest; Neural Crest - growth & development; Neural Crest - pathology; Pregnancy; Underweight
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.61759

Fetal alcohol spectrum disorders (FASD) describe a range of physical, behavioral, and neurologic deficits in individuals exposed to alcohol prenatally. Reduced palpebral fissure length is one of the cardinal facial features of FASD. However, other ocular measurements have not been studied extensively in FASD. Using the Fetal Alcohol Syndrome Epidemiologic Research (FASER) database, we investigated how inner canthal distance (ICD), interpupillary distance (IPD), and outer canthal distance (OCD) centiles differed between FASD and non‐FASD individuals. We compared ocular measurement centiles in children with FASD to non‐FASD individuals and observed reductions in all three centiles for ICD, IPD, and OCD. However, when our non‐FASD children who had various forms of growth deficiency (microcephaly, short‐stature, or underweight) were compared to controls, we did not observe a similar reduction in ocular measurements. This suggests that reductions in ocular measurements are a direct effect of alcohol on ocular development independent of its effect on growth parameters, which is consistent with animal models showing a negative effect of alcohol on developing neural crest cells. Interpupillary distance centile appeared to be the most significantly reduced ocular measure we evaluated, suggesting it may be a useful measure to be considered in the diagnosis of FASD.