Orak S.A.Erdogan M.Yilmaz C.Atasever A.K.Kubur C.C.Polat M.2024-07-222024-07-22202218236138http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/12404Horizontal gaze palsy along with progressive scoliosis (HGPPS) is rare and autosomal recessive disease related to the mutations in the ROBO3 gene located on chromosome 11q23-25. We present here two siblings from parents of consanguineous marriage, who were diagnosed with bilateral horizontal gaze restriction and scoliosis associated with homozygous mutation within ROBO3 gene and at the same time having neuroimaging findings. With HGPSS’s typical findings, we detected a homozygous c.1366G> T (p.Gly456Ter) variant in the ROBO3 gene in our patients. HGPPS should be confirmed by ROBO3 gene analysis, and the brain MRI may be the first diagnostic technique. © 2022, ASEAN Neurological Association. All rights reserved.EnglishAll Open Access; Bronze Open Accessroundabout receptorArticlebest corrected visual acuitycase reportchildchildhoodchromosome 11qclinical articleconsanguineous marriagefemalegaze paralysisgenegene mutationgenetic variabilitygeneticshorizontal gaze palsy along with progressive scoliosishumanmalemedulla oblongataneuroimagingnuclear magnetic resonance imagingnystagmuspreschool childROBO3 genescoliosissiblingstrabismusT1 weighted imagingthoracolumbar scoliosistorticollisvisual acuityvisual fieldArticle10.54029/2022tcw