Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and vision

J AAPOS. 2012 Oct;16(5):418-23. doi: 10.1016/j.jaapos.2012.05.012.


Purpose: To assess in children with optic nerve hypoplasia (ONH) whether newborn screening (NBS) thyroid-stimulating hormone (TSH) measurements can detect central hypothyroidism and whether newborn TSH or subsequent thyroidal status is associated with visual function.

Methods: From a registry of children with ONH at Children's Hospital Los Angeles, post-natal thyroidal status was retrospectively compared with NBS TSH levels in the subset of subjects born in California. The subset of subjects with outcome data at age 5 years was assessed for relationship of vision to NBS TSH levels and ultimate thyroidal status.

Results: A total of 135 subjects from the ONH registry were included in this study. Approximately 50% of subjects in each analysis were hypothyroid. Those diagnosed with hypothyroidism had lower median NBS TSH levels than did euthyroid subjects (3.2 vs 4.5 μIU/mL; P = 0.006) and significantly worse quantitative vision outcomes (median visual acuity, logMAR 3.0 vs 1.0; P = 0.039). Receiver operating characteristic analysis suggested an optimal NBS TSH cut-point of 3.3 μIU/mL. Serum TSH levels greater than this (30/43) were associated with relatively better vision outcomes (median visual acuity, logMAR 1.2 vs 3.3; P = 0.04).

Conclusions: Children with ONH and lower NBS TSH levels are more likely to have central hypothyroidism and less likely to experience good vision than those with greater NBS TSH levels.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Congenital Hypothyroidism / diagnosis*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Optic Nerve Diseases / blood
  • Optic Nerve Diseases / complications
  • Optic Nerve Diseases / congenital*
  • Retrospective Studies
  • Risk Factors
  • Thyrotropin / metabolism*
  • Vision Disorders / diagnosis*
  • Vision Disorders / etiology
  • Vision Screening
  • Visual Acuity


  • Thyrotropin

Supplementary concepts

  • Optic Nerve Hypoplasia, Bilateral