Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies

Lamb-Shaffer syndrome is a rare neuro-developmental disorder associated with haploinsufficiency of the SOX5 gene. Clinical manifestations include speech delay, behavioral challenges, intellectual disability, and dysmorphic features. Up to 57% of patients have ophthalmic findings, including strabismus, refractive error, and optic nerve abnormalities. We present 2 siblings who are the first documented cases of Lamb-Shaffer syndrome with the p.R571W: c.1711 C>T SOX5 mutation to demonstrate optic nerve atrophy.