Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
Suma P ShankarReshmitha FallurinTonya WatsonPrabhu R ShankarTerri L YoungDeborah Orel-BixlerKatherine A RauenPublished in: Ophthalmic genetics (2021)
Majority of individuals with CS have refractive errors, strabismus, nystagmus, absent stereopsis, and optic nerve abnormalities suggesting that HRAS and the Ras pathway play a vital role in visual system development. Ptosis, refractive errors and strabismus are amenable to treatment and early ophthalmic evaluation is crucial to prevent long-term vision impairment and improve overall quality of life in CS.