목적: 레베르선천흑암시와 주버트 증후군이 동반된 증례를 보고하고자 한다. 증례요약: 7개월 된 남아가 출생 시부터 눈을 못 맞추고 눈이 몰린다는 주소로 내원하였다. 환아는 양안 주시가 불완전하였으며, 눈떨림 및 내사시가 동반되었다. 전안부 및 안저검사상 특이 소견은 관찰되지 않았다. 시유발전위도검사 및 망막전위도검사에서 양안 모두 반응이 없었다. 환아는 비정상적인 호흡 형태, 전반적인 발달 지연 및 근긴장도 저하를 보였으며, 뇌자기공명영상에서 소뇌 충부의 무형성이 관찰되어 주버트 증후군으로 진단되었다. 생후 2세에 경과 관찰하였을 때 양안 주시 및 추종이 호전되었고, 눈떨림 및 내사시는 소실되었다. 시유발전위도검사 및 망막전위도검사는 양안 모두 반응이 없었다. 결론: 레베르선천흑암시와 주버트 증후군이 동반될 수 있어 레베르선천흑암시가 있는 소아에서는 동반된 전신 이상을 확인하는 것이 필요하다.

Purpose: To report a case of Joubert syndrome associated with Leber’s congenital amaurosis. Case Summary: A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not fixate with his eyes or follow objects. Nystagmus in both eyes and moderate angle esotropia were present. Slit lamp examination and fundus examination showed no significant findings. Visual evoked potential and electroretinogram were extinguished in both eyes. The patient showed abnormal respiratory patterns, developmental delay, and hypotonia. Brain MRI showed aplasia of the cerebellar vermis, and he was diagnosed with Joubert syndrome. At 2 years of age, he was moderately able to fixate with his eyes and to crudely follow objects. Nystagmus and esotropia had diminished, but the visual evoked potential and electroretinogram still showed no response in both eyes. Conclusions: Leber’s congenital amaurosis can be associated with Joubert syndrome, and children with Leber’s congenital amaurosis should be evaluated for associated systemic abnormalities.

Purpose: To report a case of Joubert syndrome associated with Leber’s congenital amaurosis. Case Summary: A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not fixate with his eyes or follow objects. Nystagmus in both eyes and moderate angle esotropia were present. Slit lamp examination and fundus examination showed no significant findings. Visual evoked potential and electroretinogram were extinguished in both eyes. The patient showed abnormal respiratory patterns, developmental delay, and hypotonia. Brain MRI showed aplasia of the cerebellar vermis, and he was diagnosed with Joubert syndrome. At 2 years of age, he was moderately able to fixate with his eyes and to crudely follow objects. Nystagmus and esotropia had diminished, but the visual evoked potential and electroretinogram still showed no response in both eyes. Conclusions: Leber’s congenital amaurosis can be associated with Joubert syndrome, and children with Leber’s congenital amaurosis should be evaluated for associated systemic abnormalities.