PDF(Pubmed)
Abstract：
We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development. Genetic investigation revealed the boy had a splicing variant (c.940-11G>A) of the oculocerebrorenal syndrome of Lowe (OCRL) gene. The boy underwent a lensectomy for congenital cataract in his right eye, and lensectomy combined with a 360° suture trabeculotomy to remove the clouded lens and to control IOP of the left eye. During postoperative one-and-a-half-year follow-up, the boy exhibited an improved visual acuity and a well-controlled IOP without the use of topical IOP-lowering medications. Lowe syndrome is a rare multisystemic disorder that is diagnosed through clinical manifestation and genetic testing. The possibility of Lowe syndrome should be considered in patients presenting with typical triad, and genetic analysis should be performed in time to confirm the diagnosis. We recommend combined cataract surgery and minimally invasive glaucoma surgery (MIGS) as a safe, feasible, and efficient method to treat congenital cataract and glaucoma in Lowe syndrome patients.
摘要：
我们描述了一个4个月大的男孩，他的左眼表现为双侧先天性白内障和高眼压（IOP）。其次是智力低下和运动发育迟缓。遗传调查显示，该男孩具有Lowe（OCRL）基因的眼脑肾综合征的剪接变体（c.940-11G>A）。这个男孩因右眼先天性白内障接受了晶状体切除术，和晶状体切除术结合360°缝合小梁切开术，以去除混浊的晶状体并控制左眼的IOP。在术后一年半的随访中，该男孩在不使用局部降眼压药物的情况下,视力得到改善,眼压控制良好.Lowe综合征是一种罕见的多系统疾病，可通过临床表现和基因检测诊断。在出现典型三联征的患者中，应考虑Lowe综合征的可能性，应及时进行基因分析以确认诊断。我们建议联合白内障手术和微创青光眼手术（MIGS）作为一种安全，可行,治疗Lowe综合征患者先天性白内障和青光眼的有效方法。
