Dhiman Rebika, Gandepalli Lavanya, Rathod Aishwarya, Badkhane Shruti, Phuljhele Swati, Saxena Rohit
Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India.
Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India.
J AAPOS. 2024 Feb;28(1):103822. doi: 10.1016/j.jaapos.2023.09.012. Epub 2024 Jan 24.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive condition characterized by absence of abduction and adduction movements with intact vertical eye movements and progressive scoliosis. Patients usually present by mid-childhood with complaints of progressive scoliosis. The clinical diagnosis of HGPPS can be further confirmed by the ROBO3 gene mutation on chromosome number 11. We present 2 Indian siblings who were incidentally diagnosed with HGPPS with synergistic convergence on regular eye examination; diagnosis was confirmed by radiological and genetic testing.
伴有进行性脊柱侧凸的水平凝视麻痹(HGPPS)是一种罕见的常染色体隐性疾病,其特征是外展和内收运动缺失,垂直眼球运动正常,伴有进行性脊柱侧凸。患者通常在童年中期出现进行性脊柱侧凸的症状。HGPPS的临床诊断可通过11号染色体上的ROBO3基因突变进一步确诊。我们报告了2例印度同胞,他们在常规眼科检查中意外被诊断为HGPPS并伴有协同性集合;通过影像学和基因检测确诊。