Pina Susana, Pedrosa Catarina, Feijóo Bernardo, Machado Sara, Prieto Isabel, Costa Cristina, Santos Maria João
J Pediatr Ophthalmol Strabismus. 2014 May 28;51 Online:e29-32. doi: 10.3928/01913913-20140521-01.
The authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratoconus with horizontal gaze palsy with progressive scoliosis suggests that ophthalmologic assessment should search for signs of this ectasia in these patients.
作者报告了一例患有水平凝视麻痹伴进行性脊柱侧弯和圆锥角膜的儿童病例。ROBO3分析确定了复合杂合突变。圆锥角膜手术方法使双眼视力得到改善。此前未报道过的圆锥角膜合并水平凝视麻痹伴进行性脊柱侧弯的病例表明，眼科评估应在这些患者中寻找这种扩张的体征。
