To the editor:Horizontal gaze palsy with progressive scoliosis(HGPPS)is a rare autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive sc...To the editor:Horizontal gaze palsy with progressive scoliosis(HGPPS)is a rare autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis.Based on the clinical features and molecular diagnosis,HGPPS could be classified into two subtypes.HGPPS1(OMIM1#607313)is caused by mutations of the ROBO3 gene.1 With exceptions of inability to move eyes horizontally and scoliosis,patients may have symptoms such as nystagmus,strabismus,facial palsy,sensory hearing loss,nodding of the head,and motor delay2.展开更多
To the editor:A 4-month-old male patient was brought to our clinic due to an inability to pursue objects.He was born by cesarean section at term due to intrauterine hypoxia,with a birth weight of 4000 g.An ultrasound ...To the editor:A 4-month-old male patient was brought to our clinic due to an inability to pursue objects.He was born by cesarean section at term due to intrauterine hypoxia,with a birth weight of 4000 g.An ultrasound B-scan conducted at birth showed normal kidneys.The patient had light perception visual acuity,horizontal nystagmus,and intraocular pressures of 10mmHg in both eyes.No abnormalities were observed in the anterior ocular segment except for a sluggish response to light.展开更多
文摘To the editor:Horizontal gaze palsy with progressive scoliosis(HGPPS)is a rare autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis.Based on the clinical features and molecular diagnosis,HGPPS could be classified into two subtypes.HGPPS1(OMIM1#607313)is caused by mutations of the ROBO3 gene.1 With exceptions of inability to move eyes horizontally and scoliosis,patients may have symptoms such as nystagmus,strabismus,facial palsy,sensory hearing loss,nodding of the head,and motor delay2.
文摘To the editor:A 4-month-old male patient was brought to our clinic due to an inability to pursue objects.He was born by cesarean section at term due to intrauterine hypoxia,with a birth weight of 4000 g.An ultrasound B-scan conducted at birth showed normal kidneys.The patient had light perception visual acuity,horizontal nystagmus,and intraocular pressures of 10mmHg in both eyes.No abnormalities were observed in the anterior ocular segment except for a sluggish response to light.
