Rojananuangnit Kulawan, Rojnueangnit Kitiwan
Glaucoma Unit, Department of Ophthalmology, Mettapracharak (Wat Rai Khing) Hospital, Nakhon Pathom, Thailand.
Division of Genetics, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.
Appl Clin Genet. 2023 Aug 29;16:165-170. doi: 10.2147/TACG.S422312. eCollection 2023.
Bilateral secondary angle closure glaucoma is a presenting symptom of microspherophakia and ectopia lentis. Characterizing the associated syndrome and confirmation by genetic testing can identify associated systemic abnormalities and provide appropriate genetic counseling.
A 42-year-old woman with severe intellectual disability presented with light perception visual acuity and glaucoma, with intraocular pressure (IOP) in her right and left eyes of 69 and 70 mmHg, respectively. She underwent two sessions of 270-degree laser diode transscleral cytophotocoagulation treatment at a 6-month interval and was prescribed topical anti-glaucoma medication. Her family noticed a progressive decrease in her vision while on treatment for 2 years. She was diagnosed with apparent Weill-Marchesani syndrome, accompanied by angle closure glaucoma and microspherophakia. Cataract surgery and intraocular lens implantation were successful in both eyes and post-operative IOP was controlled with anti-glaucoma medication but her vision did not improve from severe glaucomatous optic neuropathy. Her underlying syndrome was investigated genetically by whole exome sequencing.
Sequencing showed a pathogenic variant in , c.3955dupC (p.Gln1319Profs*14), diagnostic of Coffin-Siris syndrome. This is the first report of Coffin-Siris syndrome associated with microspherophakia and angle closure glaucoma.
Bilateral angle closure glaucoma from ectopia lentis in patients with genetic syndromes could be an indicator of microspherophakia in adulthood. Ophthalmological surveillance is important in patients with Coffin-Siris syndrome.
双侧继发性闭角型青光眼是小球形晶状体和晶状体异位的一种表现症状。对相关综合征进行特征描述并通过基因检测进行确认，可识别相关的全身异常情况并提供适当的遗传咨询。
一名42岁重度智力残疾女性，视力仅存光感且患有青光眼，右眼和左眼眼压分别为69 mmHg和70 mmHg。她接受了间隔6个月的两次270度激光二极管经巩膜睫状体光凝治疗，并被开具了局部抗青光眼药物。在治疗2年期间，其家人注意到她的视力逐渐下降。她被诊断为明显的Weill-Marchesani综合征，伴有闭角型青光眼和小球形晶状体。双眼白内障手术及人工晶状体植入均成功，术后眼压通过抗青光眼药物得到控制，但由于严重的青光眼性视神经病变，她的视力并未改善。通过全外显子组测序对其潜在综合征进行了基因研究。
测序显示存在一个致病变异，c.3955dupC（p.Gln1319Profs*14），可诊断为科芬-西里斯综合征。这是首例与小球形晶状体和闭角型青光眼相关的科芬-西里斯综合征报告。
患有遗传综合征的患者因晶状体异位导致的双侧闭角型青光眼可能是成年期小球形晶状体的一个指标。对科芬-西里斯综合征患者进行眼科监测很重要。
