PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: Sequencing showed a pathogenic variant in ARID1B, 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: Sequencing showed a pathogenic variant in ARID1B, 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.
UNASSIGNED: 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.
摘要：
■双侧继发性闭角型青光眼是一种表现为微球体眼和外翻的症状。表征相关综合征并通过基因检测进行确认可以识别相关的系统性异常并提供适当的遗传咨询。
一名42岁的女性，患有严重的智力障碍，表现为光觉视力和青光眼，她的右眼和左眼的眼内压（IOP）为69和70mmHg，分别。她间隔6个月接受了两次270度激光二极管经巩膜细胞热凝治疗，并接受了局部抗青光眼药物治疗。她的家人注意到在治疗2年期间她的视力逐渐下降。她被诊断出患有明显的Weill-Marchesani综合征,伴有闭角型青光眼和微球。双眼白内障手术和人工晶状体植入术均成功，术后眼压得到了抗青光眼药物的控制，但严重的青光眼视神经病变并未改善她的视力。通过全外显子组测序对她的潜在综合征进行了基因研究。
■测序显示ARID1B有致病变异，c.3955dupC（p。Gln1319Profs*14），Coffin-Siris综合征的诊断.这是与微球和闭角型青光眼相关的Coffin-Siris综合征的首次报道。
■在遗传综合征患者中，双侧闭角型青光眼可能是成年期微球体病的指标。眼科监测对Coffin-Siris综合征患者很重要。
一名42岁的女性，患有严重的智力障碍，表现为光觉视力和青光眼，她的右眼和左眼的眼内压（IOP）为69和70mmHg，分别。她间隔6个月接受了两次270度激光二极管经巩膜细胞热凝治疗，并接受了局部抗青光眼药物治疗。她的家人注意到在治疗2年期间她的视力逐渐下降。她被诊断出患有明显的Weill-Marchesani综合征,伴有闭角型青光眼和微球。双眼白内障手术和人工晶状体植入术均成功，术后眼压得到了抗青光眼药物的控制，但严重的青光眼视神经病变并未改善她的视力。通过全外显子组测序对她的潜在综合征进行了基因研究。
■测序显示ARID1B有致病变异，c.3955dupC（p。Gln1319Profs*14），Coffin-Siris综合征的诊断.这是与微球和闭角型青光眼相关的Coffin-Siris综合征的首次报道。
■在遗传综合征患者中，双侧闭角型青光眼可能是成年期微球体病的指标。眼科监测对Coffin-Siris综合征患者很重要。
