Lowe综合征合并青光眼1例

Oculocerebrorenal syndrome of lowe with glaucoma:a case report

Lowe综合征为罕见的X连锁隐形遗传病,诊断主要依赖于临床表现及基因检测。本例患儿于白内障术后随访发现眼压升高,进而诊断为双眼青光眼并进行了手术治疗,提示Lowe综合征患者各种临床表现可随成长逐渐显露,需长期随访,密切关注,及时干预。本例患儿发生了OCRL第22号外显子移码突变,该突变位点目前国内尚无文献报道,进一步丰富Lowe综合征的基因谱。

Lowe syndrome is a rare X-linked disease.The diagnosis mainly depends on clinical manifestations and gene sequencing.We present a male patient with Lowe syndrome with glaucoma,which was diagnosed after cataract surgery.The patient also underwent surgical treatment for the glaucoma.It is suggested that patients with Lowe syndrome need long-term follow-up.To the best of our knowledge,this frameshift mutation has not yet been reported in domestic literature.Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.