Wang Chen, Zhang Wenzhe, Wang Leyi, Liu Wenhui, Guo Hui
Department of Ophthalmology, Qilu Hospital, Shandong University, Jinan, China.
Front Med (Lausanne). 2022 Jul 1;9:913229. doi: 10.3389/fmed.2022.913229. eCollection 2022.
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.
我们描述了一名4个月大男婴的病例,该患儿患有双侧先天性白内障且左眼眼压高,随后出现智力发育迟缓及运动发育迟缓。基因检测显示该男孩患有 Lowe 眼脑肾综合征(OCRL)基因的剪接变异(c.940-11G>A)。该男孩右眼因先天性白内障接受了晶状体切除术,左眼则接受了晶状体切除术联合360°缝线小梁切开术,以摘除混浊晶状体并控制眼压。在术后一年半的随访中,该男孩视力有所改善,眼压得到良好控制,无需使用局部降眼压药物。Lowe 综合征是一种罕见的多系统疾病,通过临床表现和基因检测进行诊断。对于出现典型三联征的患者应考虑 Lowe 综合征的可能性,并应及时进行基因分析以确诊。我们推荐白内障手术联合微创青光眼手术(MIGS)作为治疗 Lowe 综合征患者先天性白内障和青光眼的一种安全、可行且有效的方法。