제1형 신경섬유종증 환자들에서 관찰된 망막미세혈관이상 소견 = Retinal Microvascular Abnormalities in Patients with Type I Neurofibromatosis

국문 초록 (Abstract)

목적: 제1형 신경섬유종증 환자에서 관찰되는 망막미세혈관이상의 양상과 빈도를 알아보고자 하였다. 대상과 방법: 제1형 신경섬유종증 환자 61명과 전신질환 및 안과적 이상이 없는 대조군 61명의 안저촬영사진을 후향적으로 비교 분석하였다. 단순혈관굴곡, 나선상의 망막혈관, 모야모야형 패턴 양상으로 나타나는 망막미세혈관이상 유무를 확인하였고, 제1형 신경섬유종증에 대한 진단민감도, 진단특이도, 양성예측도, 음성예측도 및 진단정확도를 분석하였다. 결과: 환자군 중 19.7% (12명)에서 망막미세혈관이상이 있었으며, 대조군에서는 해당되는 경우가 없어서, 환자군과 대조군 간 망막미세혈관이상 유무는 의미있는 차이를 보였다(p=0.0003). 망막미세혈관이상을 보이는 환자 12명 중 11명은 단순혈관굴곡 양상이, 1명은 나선상의 망막혈관 양상이 관찰되었으며 1명은 2가지 소견 모두 나타내었다. 제1형 신경섬유종증에 대한 망막미세혈관이상의 진단민감도는 23.53%, 진단특이도는 100%, 양성예측도는 100%, 음성예측도는 61%였다. 진단정확도는 65.18%로, 리쉬결절의 진단정확도인 79.5%보다 다소 낮았으나, 신경섬유종의 진단정확도인 68.03%와 필적하는 진단정확도를 보였다. 결론: 제1형 신경섬유종증 환자군의 19.7%에서 망막미세혈관이상이 관찰되었으며 이 중 단순혈관굴곡 양상이 가장 많았다. 망막미세혈관이상이 대조군에서는 전혀 없었고, 진단정확도가 65.18%임을 고려하면 이는 제1형 신경섬유종증의 새로운 안과적 임상양상에 포함될 수 있을 것이다

다국어 초록 (Multilingual Abstract)

Purpose: To evaluate the findings and frequencies of retinal microvascular abnormalities observed in patients with type 1 neurofibromatosis. Methods: Fundus photographs of 61 patients with type 1 neurofibromatosis and 61 controls without systemic disease or ophthalmic abnormalities were retrospectively compared and analyzed. The presence or absence of retinal microvascular abnormalities in the form of simple vascular tortuosity, corkscrew retinal vessels, and moyamoya-like patterns was confirmed, and the diagnostic sensitivity, diagnostic specificity, positive predictive value, negative predictive value, and diagnostic accuracy for type 1 neurofibromatosis were analyzed. Results: Retinal microvascular abnormalities were found in 19.7% (12 patients) of the patient group, There was no cases in the control group, thus. The difference between the patient group and the control group was significant (p = 0.0003). Of the 12 patients with abnormalities, 10 exhibited simple vascular tortuosity, one had corkscrew retinal vessels, and one exhibited both findings. The diagnostic sensitivity of retinal microvascular abnormalities for type 1 neurofibromatosis was 23.53%, the diagnostic specificity was 100%, the positive predictive value was 100%, and the negative predictive value was 61%. The diagnostic accuracy was 65.18%, which was slightly lower than the 79.5% diagnostic accuracy for the Lisch nodule, but the diagnostic accuracy was comparable to that of neurofibroma (68.03%). Conclusion: Retinal microvascular abnormalities were observed in 19.7% of type 1 neurofibromatosis patients, of which simple vascular tortuosity was the most common. Considering that retinal microvascular abnormalities were not observed at all in the control group, and the diagnostic accuracy was 65.18%, this type of abnormality could be included as a new ophthalmic clinical feature of type 1 neurofibromatosis.

참고문헌 (Reference)

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