title: Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.
abstract: The authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratoconus with horizontal gaze palsy with progressive scoliosis suggests that ophthalmologic assessment should search for signs of this ectasia in these patients.
authors.forename: Susana
authors.initials: S
authors.lastname: Pina
authors.forename: Catarina
authors.initials: C
authors.lastname: Pedrosa
authors.forename: Bernardo
authors.initials: B
authors.lastname: Feijóo
authors.forename: Sara
authors.initials: S
authors.lastname: Machado
authors.forename: Isabel
authors.initials: I
authors.lastname: Prieto
authors.forename: Cristina
authors.initials: C
authors.lastname: Costa
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Santos
mesh_terms: D002648:Child; D006801:Humans; D007640:Keratoconus / Q000235:genetics* / Q000601:surgery; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*; D014792:Visual Acuity; D000097905:Roundabout Proteins; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins