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

• Main Authors: Elena Pinero-Pinto, Verónica Pérez-Cabezas, Cristina Tous-Rivera, José-María Sánchez-González, Carmen Ruiz-Molinero, José-Jesús Jiménez-Rejano, María-Luisa Benítez-Lugo, María Carmen Sánchez-González
• Format: Article
• Language: English
• Published: MDPI AG 2020-06-01
• Series: International Journal of Environmental Research and Public Health
• Subjects: mutation; gaze palsy; familial horizontal; scoliosis; children
• Online Access: https://www.mdpi.com/1660-4601/17/12/4467

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 (<i>ROBO</i>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 <i>ROBO</i>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.