ABSTRACT Lamb-Shaffer syndrome (LAMSHF) is a rare condition characterized by neurodevelopmental disorders caused by haploinsufficiency of the SOX5 gene on chromosome 12p12. Clinically, it manifests itself with growth retardation, global neurodevelopmental delay, speech delay, dysmorphic facial features, and musculoskeletal, cardiac, and genitourinary abnormalities. Although frequent, the ophthalmological presentations of this syndrome are not well established in the literature. In this study, we aim to report a new case of this rare condition, highlighting the ophthalmological aspects of its condition.