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원발개방각녹내장을 지닌 직계가족의 임상 특징

Clinical Characteristics of First-Degree Relatives with Primary Open-Angle Glaucoma

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목적: 원발개방각녹내장이 있는 직계가족에서 나타나는 녹내장의 임상 특징을 알아보고자 하였다. 대상과 방법: 장기간 관찰연구로 원발개방각녹내장을 지닌 총 44명(22쌍)의 직계가족을 대상으로 평균 3.3년 경과관찰하였고, 초진및 추적관찰 중 얻은 자료를 분석하였다. 초진 시 안압, 중심각막두께, 구면 대응치, 시야 평균 편차, 빛간섭단층촬영으로 측정한 망막신경섬유층 두께를 알아보았다. 이후 안압, 평균 안압 하강률, 시야 평균편차 또는 망막신경섬유층 두께를 이용하여 선형 회귀 분석을통해 진행률을 알아보았고 양안 및 녹내장이 더 진행된 눈의 자료를 가족 구성원끼리 비교하였다. 결과: 총 22쌍의 가족 중, 16가족은 부모 자식, 6가족은 형제자매로 구성되었다. 가족간 초진 시 평균 안압 및 중심각막두께는 차이가없었다. 부모 자식군에서, 부모가 시야 및 망막신경섬유층 두께에서 모두 유의하게 더욱 진행된 소견을 보였으나 근시 정도는 자식에서 더 높았다. 하지만 형제자매군에서는 구성원 간에 측정한 모든 자료에서 유의한 차이를 보이지 않았다. 22군 중 4군에서 연하의환자에서 초기 더욱 나쁜 시야이상을 가지고 있었다. 각 그룹에서 평균 안압, 안압 하강 정도, 진행 정도는 서로 차이를 보이지 않았다. 결론: 본 연구에서, 초기 안압, 약물에 대한 안압의 반응 정도, 녹내장 진행률은 가족 간 유사한 특징을 보이나 몇몇 가족에서 연하의환자군에서 더욱 나쁜 초기 손상 및 진행의 특징을 가지는 것을 보았을 때 직계가족 간에서도 임상적 특징은 다양할 수 있을 것으로생각한다.

Abstract

Purpose: To investigate the clinical characteristics of first-degree relatives with primary open-angle glaucoma (POAG). Methods: Forty-four POAG patients (22 pairs of eyes from 2 first-degree relatives) were followed for an average of 3.3 years. Baseline characteristics and follow-up data were analyzed. Baseline data consisted of baseline intraocular pressure (IOP), centralcorneal thickness (CCT), spherical equivalent, visual field mean deviation (VF MD) and average retinal nerve fiber layer(RNFL) thickness measured using optical coherence tomography (OCT). Follow-up data consisted of mean follow-up IOP, meanIOP reduction from baseline (%) and progression rates determined by linear regression analysis of either VF MD value or OCTRNFL thickness. Mean data of both eyes and the worse eye were compared between first-degree relatives of the same family. Results: Among the 22 families, 16 pairs of eyes were from parent/offspring and 6 from siblings. No difference in mean baselineIOP and CCT were found between first-degree relatives. The older patients in parent-offspring families showed significantlymore advanced glaucoma in terms of both VF and RNFL thickness, but were less myopic; however, no differences in variableswere found between relatives in the 6 families composed of siblings. Among the 22 families, worse baseline VF MD was observedin younger patients compared with the older patients in 4 families. Mean follow-up IOP, mean IOP reduction from baseline,and progression rate did not differ between the older and the younger patient in each family. Conclusions: In our study, similar characteristics in terms of baseline IOP, IOP response to medication, and glaucoma progressionrate were found in members of the same family. However, in some of the families, the younger patient had poorer baselineseverity and more aggressive characteristics compared with the older patient, suggesting the clinical course of the diseasemay vary among first-degree relatives.

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