Ophthalmic Manifestations in Patients With Neuro

Abstract

목적: 신경섬유종증의 안과적 소견과 그 빈도에 대하여 알아보고자 한다.

대상과 방법: 2001년 11월에서 2008년 1월까지 본원 안과를 방문한 환자 중 신경섬유종증의 진단 기준을 충족하는 153명을 대상으로 후향적 연구를 시행하였다.

결과: 남자 77명, 여자 76명이며 평균 나이는 20.44±14.34세이고 신경섬유종증 제1형 112명, 제2형 6명, 분절 제 1형 35명이었다. 신경섬유종증 제1형에서는 리쉬소결절(52.68%), 고도근시(14.29%), 안와 내 얼기형 신경섬유종 (4.46%), 담갈색반점(4.46%), 시신경아교종(3.58%)의 순으로 관찰 되었다. 제2형에서는 망막전막(33.33%), 후 낭하백내장(16.67%), 리쉬소결절(16.67%), 시신경유두부종(16.67%), 시신경아교종(16.67%)의 순으로 관찰되었 고 분절형 제1형에서는 리쉬소결절(25.71%)이 가장 흔하게 관찰되었다.

결론: 신경섬유종증 제1형에서 가장 흔하게 관찰되는 리쉬소결절은 이전 서양에서 발표된 연구보다는 드물게 관찰되었 다. 제2형에서는 망막전막과 후낭하백내장의 빈도가 높았다.

Purpose: To report the ophthalmic manifestations of neurofibromatosis in Korea.

Methods: Ophthalmologic examinations were performed from November 2001 to January 2008 for 153 consecutive patients who were diagnosed with neurofibromatosis according to the diagnostic criteria for neurofibromatosis. A retrospective analysis was performed according to the medical records of these 153 patients.

Results: Seventy seven out of the 153 patients were men, 76 were women and the mean age was 20.44±14.34 years old. One hundred twelve were neurofibromatosis type 1 and six were neurofibromatosis type 2. Remained thirty five were segmental neurofibromatosis type 1. Ophthalmic manifestations of the neurofibromatosis type 1 were Lisch nodule (52.68%), high myopia (14.29%), plexiform neurofibroma in the orbit (4.46%), cafe au lait spots (4.46%) and optic glioma (3.58%). In the neurofibromatosis type 2, epiretinal membrane (33.33%) showed highest incidence and posterior subcapsular opacity (16.67%), Lisch nodule (16.67%), optic disc edema (16.67%), and optic nerve glioma (16.67%) were also noted. Lisch nodule (25.71%) was the most common ophthalmic finding in segmental neurofibromatosis type 1.

Conclusions: Lisch nodule, which was the most common manifestation of the neurofibromatosis type 1, was less manifested in our cases compared to the previous reports of western countries. In the neurofibromatosis type 2, epiretinal membrane and posterior subcapsular cataract showed higher incidence than those of other types of neurofibromatosis.