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 (ROBO3) 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 ROBO3 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.
Highlights
Horizontal gaze palsy with progressive scoliosis (HGPPS; OMIM 607313) is a rare autosomal recessive disorder, first described by Dretakis and Kondoyannis [1] and with Crisfield’s first complete neurological description in 1974 [2], noting the absence of horizontal gaze in the patients examined and the development of severe and progressive scoliosis during childhood [3]
The selected studies present a total of 64 patients suffering from HGPPS, which is a congenital disease caused by an autosomal recessive disorder that is characterized by the restriction or absence of horizontal gaze and a progressive scoliosis that begins in early childhood [3,4,8,11,12,14,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36]
Mutations in the ROBO3 gene located on chromosome 11q23–25 are responsible for the development of horizontal gaze palsy and progressive scoliosis [2,4,32]
Summary
Horizontal gaze palsy with progressive scoliosis (HGPPS; OMIM 607313) is a rare autosomal recessive disorder, first described by Dretakis and Kondoyannis [1] and with Crisfield’s first complete neurological description in 1974 [2], noting the absence of horizontal gaze in the patients examined and the development of severe and progressive scoliosis during childhood [3]. HGPPS is characterized by the congenital absence or severe restriction of horizontal gaze and progressive scoliosis that begins in early childhood. The treatment is through spinal surgery [4,5]. These patients appear to have few functional consequences, but results from standardized neuropsychological tests are currently unknown [6]. Jen et al [8] described that homozygous mutations occur on chromosome 11q23–25, which encodes a protein that shares homology
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