Tefon Arıbaş A B, Aktaş Zeynep, Özdek Şengül
Department of Ophthalmology, Gaziantep Abdulkadir Yüksel State Hospital, Gaziantep, Turkey.
Department of Ophthalmology, Gazi University School of Medicine, Ankara, Turkey.
J Curr Glaucoma Pract. 2021 May-Aug;15(2):99-101. doi: 10.5005/jp-journals-10078-1308.
To report a unique presentation of Gorlin-Goltz syndrome (GGS) with congenital glaucoma.
We report a case of a 3-month-old female patient with bilateral uncontrolled intraocular pressures (IOP), who was already diagnosed with GGS. Examination under anesthesia demonstrated microcornea, iris coloboma, lens subluxation in both eyes, and edematous cornea in the left eye. Intraocular pressure was 17 mm Hg in OD and 35 mm Hg in OS with Icare (Icare® PRO) tonometer on repetitive measurements. On dilated fundus examination, a large chorioretinal coloboma was seen on both eyes.
On physical examination, cutaneous, dental, and skeletal anomalies associated with the GGS were found. As previously reported ocular abnormalities associated with the GGS; coloboma and microphthalmia were noted. In addition, congenital glaucoma which is not one of the known associations of GGS was also detected. For treatment, 270° transscleral diode cyclophotoablation was performed for the left eye and medical treatment was reorganized for both eyes.
Neonatal-onset glaucoma might be one of the important ocular manifestations of GGS.
Tefon Arıbaş AB, Aktaş Z, Özdek Ş. Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association. J Curr Glaucoma Pract 2021;15(2):99-101.
报告1例伴有先天性青光眼的戈林-戈尔茨综合征（GGS）的独特表现。
我们报告1例3个月大的女性患者，双眼眼压控制不佳，已被诊断为GGS。麻醉下检查发现双眼小角膜、虹膜缺损、晶状体半脱位，左眼角膜水肿。使用Icare（Icare® PRO）眼压计反复测量，右眼眼压为17 mmHg，左眼眼压为35 mmHg。散瞳眼底检查发现双眼均有巨大脉络膜视网膜缺损。
体格检查发现与GGS相关的皮肤、牙齿和骨骼异常。如先前报道的与GGS相关的眼部异常；发现了缺损和小眼症。此外，还检测到先天性青光眼，而先天性青光眼并非GGS已知的相关病症之一。治疗方面，对左眼进行了270°经巩膜二极管睫状体光凝术，并对双眼的药物治疗进行了调整。
新生儿期青光眼可能是GGS重要的眼部表现之一。
Tefon Arıbaş AB, Aktaş Z, Özdek Ş. 1例戈林-戈尔茨综合征患者的新生儿期青光眼：一种不寻常的关联。《当代青光眼实践杂志》2021；15(2):99 - 101。
