This 16 year old male first came to medical attention because he could not initiate a horizontal eye movement without moving his head (ocular motor apraxia) and he first walked 6 months later than his fraternal twin. Later, his visual acuity was found to be slightly reduced. He has also noted constricted visual fields and night blindness.

The clinical features supporting the diagnosis of Joubert syndrome in this patient include: ocular motor apraxia noticed shortly after birth; delay in learning to walk; reduced acuity; night blindness; constricted visual fields; pink optic nerve heads; and, normally sighted parents.