Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review

J AAPOS. 2023 Jun;27(3):179-182. doi: 10.1016/j.jaapos.2022.05.011. Epub 2022 Sep 13.

Abstract

Lamb-Shaffer syndrome, caused by haploinsufficiency of SOX5, leads to a unique constellation of dysmorphic features and intellectual delay. The SOX5 family of proteins plays an integral role in neuronal development. We present the clinical traits of an 11-year-old boy with Lamb-Shaffer syndrome and highlight the ocular findings of the syndrome reported thus far in the literature. Approximately 55% of all patients reviewed had some form of ocular abnormality associated with Lamb-Shaffer syndrome, including, predominantly, strabismus as well as optic nerve abnormalities, epicanthal folds, and refractive errors, highlighting the potential significance of SOX5 on neurologic development.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Humans
  • Phenotype
  • Refractive Errors*
  • Strabismus* / diagnosis
  • Strabismus* / genetics
  • Syndrome