title: Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.
abstract: Joubert syndrome is a multisystem disorder that is associated with a constellation of cyclic ocular motor disturbances. We describe 2 children with congenital ocular motor apraxia who displayed wheel-rolling torsional eye movements and tonic alternating cyclodeviations of the eyes on retinal examination as a neurodiagnostic phenotype of Joubert syndrome.
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Eleni
authors.initials: E
authors.lastname: Papanagnu
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Lindsay D
authors.initials: LD
authors.lastname: Klaehn
authors.affiliation: Department of Ophthalmology of the Illinois Eye and Ear Infirmary, Chicago, Illinois.
authors.forename: Genie M
authors.initials: GM
authors.lastname: Bang
authors.affiliation: Department of Ophthalmology, St Louis University, St. Louis, Missouri.
authors.forename: Rafif
authors.initials: R
authors.lastname: Ghadban
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Brian G
authors.initials: BG
authors.lastname: Mohney
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota; Department of Neurology, Mayo Clinic, Rochester, Minnesota. Electronic address: Brodsky.michael@mayo.edu.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Brodsky
mesh_terms: D000015:Abnormalities, Multiple; D001072:Apraxias / Q000151:congenital; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D055952:Cogan Syndrome / Q000175:diagnosis*; D003598:Cytoskeletal Proteins; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D053483:Eye Movement Measurements; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D015835:Ocular Motility Disorders / Q000175:diagnosis*; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D012160:Retina / Q000002:abnormalities*; D014102:Torsion Abnormality / Q000175:diagnosis*; D014741:Video Recording
chemical_list: C528701:CC2D2A protein, human; C572460:CPLANE1 protein, human; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; D011506:Proteins