Mutation in ROBO 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review

Elena Pinero-Pinto, Verónica Pérez-Cabezas, Cristina Tous-Rivera, José-María Sánchez-González, Carmen Ruiz-Molinero, José-Jesús Jiménez-Rejano, María-Luisa Benítez-Lugo and María Carmen Sánchez-González
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Elena Pinero-Pinto: Department of Physiotherapy, University of Seville, 41009 Seville, Spain
Verónica Pérez-Cabezas: Department of Nursing and Physiotherapy, Spain INDESS (Instituto Universitario para el Desarrollo Social Sostenible), University of Cadiz, 11009 Cadiz, Spain
Cristina Tous-Rivera: Nodo Biobanco Hospital Universitario Virgen del Rocío (Biobanco del Sistema Sanitario Público de Andalucía), 41013 Seville, Spain
José-María Sánchez-González: Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain
Carmen Ruiz-Molinero: Department of Nursing and Physiotherapy, Spain INDESS (Instituto Universitario para el Desarrollo Social Sostenible), University of Cadiz, 11009 Cadiz, Spain
José-Jesús Jiménez-Rejano: Department of Physiotherapy, University of Seville, 41009 Seville, Spain
María-Luisa Benítez-Lugo: Department of Physiotherapy, University of Seville, 41009 Seville, Spain
María Carmen Sánchez-González: Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain

IJERPH, 2020, vol. 17, issue 12, 1-15

Abstract: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout ( ROBO 3) gene located on chromosome 11q23–25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies redefined the locus responsible for this pathology to a 9-cM region. This study carried out a systematic review in which 25 documents were analyzed, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. The search was made in the following electronic databases from January 1995 to October 2019: PubMed, Scopus, Web of Science, PEDRO, SPORT Discus, and CINAHL. HGPPS requires a multidisciplinary diagnostic approach, in which magnetic resonance imaging might be the first technique to suggest the diagnosis, which should be verified by an analysis of the ROBO 3 gene. This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling.

Keywords: mutation; gaze palsy; familial horizontal; scoliosis; children (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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