신경섬유종증에서 드물게 나타나는 안과 소견: 증례보고 및 고찰
Uncommon Ocular Manifestations of Neurofibromatosis: Case Report and Review
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목적: 신경섬유종증에서 드물게 나타나는 안과적 소견에 대하여 증례보고 및 고찰하고자 한다. 증례요약: 제2형 신경섬유종증을 진단받은 19세 여자 환자가 우안의 약시를 주소로 내원하였다. 안저 검사에서 양안의 시신경 유두부종및 우안의 유두주위망막출혈이 관찰되었으며 뇌 자기공명영상 결과 시신경과 시신경교차로 이행 부위에 신경초종이 관찰되었다. 제2형 신경섬유종증을 진단받은 28세 여자 환자가 우안의 약시를 주소로 내원하였다. 최대 교정 시력은 우안 안전수지, 좌안 20/20으로측정되었다. 안저 검사에서 우안 황반부에 경미하게 융기된 병변이 관찰되었고 시신경 유두와 망막 중심혈관이 융기된 병변 방향으로견인된 소견이 관찰되었다. 제1형 신경섬유종증을 진단받은 8세 여자 환아가 좌안의 안구 함몰 및 좌안 내사시를 주소로 내원하였다. 삼차원 두부 컴퓨터단층촬영 결과 접형골의 형성저하증과 좌측 안와 외벽 결손이 관찰되었다. 결론: 신경섬유종증은 다양한 안과적 소견을 나타낼 수 있으나 압박성 시신경병증, 견인성 시신경병증, 접형골 형성저하증은 드물게발생하는 소견이다. 저자들은 신경섬유종증에서 드물게 발생하는 안과적 소견을 경험하여 이를 보고하는 바이다.
Abstract
Purpose: To report and review several cases of uncommon ocular manifestations in neurofibromatosis patients. Case summary: A 19-year-old woman diagnosed with type 2 neurofibromatosis visited our hospital with amblyopia of the right eye and mild visual disturbance of the left eye. Best corrected visual acuity was 20/250 in the right eye, 20/25 in the left eye and relative afferent pupillary defect in the right eye was observed. Fundus examination of both eyes showed papilledema. Magnetic resonance imaging showed schwannoma from the optic nerve to the optic chiasm. A 28-year-old woman diagnosed with type 2 neurofibromatosis visited our hospital with amblyopia of the right eye. Best corrected visual acuity was finger count in the right eye, 20/20 in the left eye and relative afferent pupillary defect in the right eye was observed. Fundus examination of the right eye showed a slightly elevated lesion at the macula, as well as dragged optic disc and retinal vessels to the macula. An 8-year-old girl diagnosed with type 1 neurofibromatosis visited our hospital with enophthalmos and strabismus of the left eye. On exophthalmometry, enophthalmos in the left eye was found; measurements were 15.0 mm in the right eye and 13.0 mm in the left eye. Three-dimensional computed tomography revealed sphenoidal hypoplasia and a left lateral orbital wall defect. Conclusions: The authors of the present study report on neurofibromatosis patients who had an uncommon ocular manifestation. Neurofibromatosis can represent various ocular manifestations but reports of compressive optic neuropathy,dragged disc syndrome and sphenoidal hypoplasia are rare.
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