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. 2020 Oct;182(10):2243-2252.
doi: 10.1002/ajmg.a.61759. Epub 2020 Jul 17.

Ocular measurements in fetal alcohol spectrum disorders

Diego A Gomez  1 , Philip A May  2   3 , Barbara G Tabachnick  4 , Julie M Hasken  2 , Elizabeth R Lyden  5 , Wendy O Kalberg  3 , H Eugene Hoyme  6   7 , Melanie A Manning  8 , Margaret P Adam  9 , Luther K Robinson  10 , Kenneth Lyons Jones  11 , David Buckley  3 , Omar A Abdul-Rahman  12
Affiliations

Ocular measurements in fetal alcohol spectrum disorders

Diego A Gomez et al. Am J Med Genet A. 2020 Oct.

Abstract

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.

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Figures

FIGURE 1
FIGURE 1
A schematic diagram showing only the major periorbital features that are commonly measured (original image courtesy R. Hennekam, M.D. in Hall, Graham Jr, Cassidy, & Opitz, 2009; reprinted with permission from Wiley). Inner canthal distance (ICD), interpupillary distance (IPD), and outer canthal distance (OCD) are labeled accordingly
FIGURE 2
FIGURE 2
IPD centile means with 95% confidence interval bars for seven diagnostic groups
FIGURE 3
FIGURE 3
Unadjusted ICD centile means with 95% confidence interval bars for seven diagnostic groups
FIGURE 4
FIGURE 4
Unadjusted OCD centile means with 95% confidence interval bars for seven diagnostic groups
See this image and copyright information in PMC

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