후부다형각막이상증의 임상적 특징과 질병 진행에 관한 연구
The Clinical Features and Progression of the Disease in Posterior Polymorphous Corneal Dystrophy (PPCD)
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목적: 후부다형각막이상증(posterior polymorphous corneal dystrophy, PPCD)으로 진단받은 환자 37명의 증례를 모아 임상 양상 및결과를 알아보고자 하였다. 대상과 방법: 1995년부터 2012년까지 본원에서 진단 받은 37명(74안)을 대상으로 후향적으로 세극등 검사 병변의 특징, 성별, 발병나이, 증상, 양측성 여부 및 질병의 진행 정도와 내피세포 변화에 따른 관계 양상, 특정 유전자 변이성 유무 등을 분석하였다. 결과: 후부다형각막이상증(PPCD) 환자 37명(74안)들은 세극등검사상 대다수에서 tram-track line appearance 소견을 보였으며, 병변의 양상은 주로 가로로 위치하였다. 진단 당시 각막내피세포 수의 저하 소견을 나타내었으며, 세포 수 감소 및 질병은 천천히 진행하였다. 남녀간 차이는 없었으며 대부분 30대 이후, 우연히 진단되었으며 일측성이 많았다. 공통적인 특정 유전자 변이 소견은 관찰되지않았다. 합병증으로 1명이 각막이식을 받았으며, 홍채각막유착에 의한 녹내장으로 2명이 본원에서 아메드 벨브관 삽입술을 받았다. 나머지는 무증상으로 외래 경과관찰 소견을 나타내었다. 결론: 후부다형각막이상증(PPCD)은 남녀 차이는 없었고 일측성이 많았다. 또한 모든 환자군에서 공통적인 특정 유전자 소견은 관찰되지 않았다. 양안 각막내피수의 차이가 있는 경우는 내피세포의 감소가 있는 눈에서 tram track line appearance가 있나 관찰할 필요가있다. 또한 이차적 합병증으로 각막부전 및 녹내장이 발생할 수 있으나 빈도는 낮았다.
Abstract
Purpose: To analyze the clinical features and the relationship between endothelial cell changes and progression of posteriorpolymorphous corneal dystrophy (PPCD) disease by evaluating a case series of 74 eyes in 37 patients. Methods: From 1995 to 2012, patients were selected from those referred with a probable clinical diagnosis of PPCD to aspecial study group. Selection was based on the slit-lamp appearance of each case. A total of 37 patients who were diagnosedas PPCD were assessed with respect to gender, age of onset, genetic influences, and affected eyes (unilateral or bilateral). Additionally, we observed the relationship between the changes of the patients’ lesions, progression of diseaseand the rate of loss of corneal endothelial cells. Results: On slit lamp examination, a tram-track line appearance of posterior corneal surface was detected in a majority ofpatients. Most lesions lied horizontally except for 1 patient (vertically located). At the time of initial diagnosis, the patients’endothelial cell count was under 2,000 cells/mm2, a slow unilateral progressive loss of endothelial cells was observed over10 years and there was no associated gender differences. Most patients were diagnosed after their 30’s during incidentalvisits. No specific gene mutations were found in screening of the coding sequence of genes for mutations. Most patientswere asymptomatic, although 1 patient underwent penetrating keratoplasty (PKP) due to bullous keratopathy and 2 patientshad glaucoma surgery because of iridocorneal adhesion. Conclusions: In PPCD, there was no gender difference and most lesions were unilateral. Additionally, no remarkable genemutations were observed. When significantly different endothelial cell counts between patient’s eyes were detected, atram-track line appearance on a patient’s cornea surface was observed. Some patients had corneal dysfunction and glaucoma,but the frequency was lower.
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