Joubert Syndrome

Ocular Motor Abnormalities
- Absent smooth pursuit
- Hypometric saccades with prolonged latency; they change direction of fixation by turning their heads
- Nystagmus – pendular, rotary, horizontal, see-saw, torsional
Congenital Retinal Dystrophy (in majority of patients; some definitely have normal appearing fundi)
- Progressive chorioretinal pigmentary changes including reports of “mottling” in periphery
- Chorioretinal Coloboma
- Attenuation of retinal arterioles
- Nonrecordable / attenuated ERG, but Preserved flash and pattern VEPs (Differentiates from LCA)
- Rod photoreceptors are more severely affected than cones
- May have good Best Corrected Visual Acuity – reports of 20/40 (also better than LCA)
- Those with Retinal dystrophy also have Renal cysts and other kidney disease
Ptosis – Bilateral or Unilateral
Strabismus
Supranuclear Ocular motor palsies

Both have nonrecordable or severely attenuated ERG, but Joubert’s has recordable (less than normal) flash and pattern VEPs
Joubert’s generally has better Visual acuity

Autosomal Recessive
First described in 1969, by 1991, 94 patients reported
More commonly reported in cultures of consanguinity, although distributed worldwide

Neuro: Mental retardation, ataxia
Respiratory: Episodic tachypnea and apnea that improves with age
Renal: Renal cysts, inflammation, sclerosis, can be deadly
GI: protruding tongue, tongue tumors, pyloric stenosis, duodenal atresia, hepatic inflammation
Bone: Polydactyly