OPHN1 Variant Linked to 24-Hour Cyclic Strabismus Without Intellectual Disability
TL;DR: A 2026 study in Scientific Reports identified a novel OPHN1 K306N variant in a boy with cyclic strabismus, linking a 24-hour eye-alignment rhythm to altered phosphoinositide binding without the intellectual disability usually associated with OPHN1 syndrome. Key Findings 8-year-old patient: A Japanese boy had cyclic esotropia, with left eye crossing in the morning and …
