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

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.