Chen Angela C, Miller Matthew, Kapamajian Michael, Khitri Monica
Division of Ophthalmology, University of California Los Angeles, Los Angeles, CA, USA.
Division of Ophthalmology, Harbor-UCLA Medical Center, Torrance, CA, USA.
Am J Ophthalmol Case Rep. 2025 Jul 22;39:102396. doi: 10.1016/j.ajoc.2025.102396. eCollection 2025 Sep.
To report a case of delayed diagnosis of glaucoma in a patient with Coffin-Siris Syndrome (CSS) who did not have any other predisposing risk factors or typical anterior segment signs of congenital glaucoma.
A 27-year-old male with CSS was referred to the ophthalmology department for evaluation of strabismus. Past ocular history included a diagnosis of right morning glory anomaly and bilateral hyperopic astigmatism. Initial exam in the clinic was notable for visual acuity of 20/80 in the right eye and 20/40 in the left eye. Given difficulty with exam in the outpatient setting, the patient underwent exam under anesthesia. Intraocular pressures (IOPs) were 38 mmHg OD and 23 mmHg OS at induction and gonioscopy was significant for high iris insertion and prominent iris processes in both eyes. On dilated fundus exam, the right eye had a severely pallorous and cupped optic nerve; the left eye was also cupped but less so. Elevated IOPs and nerve cupping was consistent with a diagnosis of glaucoma.
Patients with CSS may develop glaucoma and should be screened for this important ophthalmic association, even in the absence of external signs of pediatric glaucoma including an enlarged cornea, anterior segment dysgenesis, or other risk factors for glaucoma such as steroid use.
报告一例患有科芬-西里斯综合征（CSS）的患者青光眼延迟诊断的病例，该患者没有任何其他诱发危险因素或先天性青光眼的典型前段体征。
一名患有CSS的27岁男性因斜视评估被转诊至眼科。既往眼部病史包括诊断为右眼牵牛花综合征异常和双眼远视散光。门诊的初次检查显示右眼视力为20/80，左眼视力为20/40。由于门诊检查困难，患者接受了麻醉下检查。诱导时右眼眼压（IOP）为38 mmHg，左眼为23 mmHg，双眼房角镜检查显示虹膜附着位置高且虹膜突明显。散瞳眼底检查时，右眼视神经严重苍白且呈杯状；左眼也呈杯状，但程度较轻。眼压升高和视神经杯状改变符合青光眼的诊断。
CSS患者可能发生青光眼，即使没有小儿青光眼的外部体征，包括角膜增大、前段发育异常或其他青光眼危险因素（如使用类固醇），也应对这种重要的眼科关联疾病进行筛查。
