CAJ | 학술논문

Lowe综合征又称眼-脑-肾综合征(Oculo-cerebro-renal syndrome),主要是位于染色体Xq26.1的OCRL1基因突变导致所编码的OCRL1蛋白缺乏或磷酸酶活性丧失而致病,是一种能引起双眼白内障(中央核性白内障为主)、神经系统和肾脏等多系统异常的全身性疾病.此病绝大多数见于男性,女性携带者仅表现为双眼白内障而不伴其他系统的异常.Lowe综合征常见的眼部表现包括双眼先天性白内障、青光眼、角结膜瘢痕瘤、弱视、视网膜萎缩等.眼部治疗主要包括白内障摘除术、青光眼滤过性手术、局部药物治疗等.
Lowe종합정우칭안-뇌-신종합정(Oculo-cerebro-renal syndrome),주요시위우염색체Xq26.1적OCRL1기인돌변도치소편마적OCRL1단백결핍혹린산매활성상실이치병,시일충능인기쌍안백내장(중앙핵성백내장위주)、신경계통화신장등다계통이상적전신성질병.차병절대다수견우남성,녀성휴대자부표현위쌍안백내장이불반기타계통적이상.Lowe종합정상견적안부표현포괄쌍안선천성백내장、청광안、각결막반흔류、약시、시망막위축등.안부치료주요포괄백내장적제술、청광안려과성수술、국부약물치료등.
Lowe syndrome also known as oculocerebrorenal syndrome.The aetiology is related to mutation of OCRL1 (Oculocerebrorenal syndrome of Lowe) gene in the chromosome Xq26.1,reulting in a deficiency of OCRL1 protein or a reduction of phosphatase activity is responsibility for the disease.Lowe syndrome is a multisystem disorder characterised by anomalies affecting the eye,the nervous system and the kidney.Most of affected individuals is male,female carriers may be presence of bilateral cataract without other systemic abnormities.The common ocular disease in Lowe syndrome including bilateral congenital cataract,glaucoma,keloid,amblyopia and retinal atrophy.The mainly ocular treatments contain phacoemulsification,glaucoma filtering operation,topical medication.