Song Xin-Zhi, Li Ling, Wang Xiang-Li
Department of Ophthalmology, Gansu Provincial Hospital, Lanzhou, China.
Gansu University Key Laboratory for Molecular Medicine & Chinese Medicine Prevention and Treatment of Major Diseases, Gansu University of Chinese Medicine, Lanzhou, China.
Int J Surg Case Rep. 2024 Dec;125:110592. doi: 10.1016/j.ijscr.2024.110592. Epub 2024 Nov 14.
Congenital iris and choroidal coloboma is a congenital ocular developmental anomaly, most occur in both eyes, which may exist in isolation or be accompanied by systemic developmental abnormalities. Herein, we report a case of congenital bilateral coloboma of iris and choroid accompanied by unilateral multiple primary pigmented iris cysts. The selection of treatment methods for iris cysts has always been a challenge for ophthalmologists. Especially for primary iris pigment epithelial cysts without clinical symptoms, no particular intervention measures are required. Which in turn helps ophthalmologists to make clinical decisions in real-world practice.
A 16-year-old boy presented to the ophthalmology clinic with a history of poor eyesight in both eyes since childhood. The pupils of both eyes were pear shaped, and there was a pigmented iris cyst about 1.5 mm × 2 mm at 6-7 o'clock pupillary margin of the left eye on slit-lamp examination. A large fan-shaped coloboma of choroid in both eyes respectively, involving the optic nerve and macular area on fundus examination. Ultrasound biomicroscopy revealed three cysts with hyperreflective walls and clear hyporeflective lumen in the left eye, one located on the anterior surface of the iris and the other two located on the posterior surface of the iris. Above all, he had no history of surgery, trauma, infection, tumor or medication. Therefore, primary pigmented iris epithelial cysts were diagnosed. Given that the patient was asymptomatic, with no impact on visual function, his cysts were monitored. After 2 years follow-up, the cysts remained stable.
Iris cysts, whether primary or secondary, are a diagnostic and a treatment challenge. Primary iris cysts are mostly present in the iridociliary sulcus and the ciliary crown, often asymptomatic, with a few located forward or larger, manifested as local protrusions around the iris. This patient had no history of ocular surgery or trauma, therefore, combining clinical manifestations and imaging examination results, primary pigmented iris epithelial cysts were diagnosed. For this patient, on the one hand, the surgical risk was high, and iris cysts probably recur after surgery, and there might be no improvement in postoperative visual acuity. On the other hand, the patient's fundus was poor and his family's economic conditions were not good. In addition, the iris cysts of this patient remained stable after 2 years of observation, therefore, no treatment was taken.
Ophthalmologists should be aware of this rare but distinctive presentation, especially in patients without symptoms. Prompt diagnosis and treatment are pivotal in ensuring favorable outcomes and preventing further ocular complications in individuals affected by these uveal anomalies.
先天性虹膜和脉络膜缺损是一种先天性眼部发育异常，多数双眼发病，可单独存在或伴有全身发育异常。在此，我们报告一例先天性双侧虹膜和脉络膜缺损伴单侧多发性原发性色素性虹膜囊肿的病例。虹膜囊肿治疗方法的选择一直是眼科医生面临的挑战。尤其是对于无临床症状的原发性虹膜色素上皮囊肿，无需特殊干预措施。这反过来有助于眼科医生在实际临床工作中做出决策。
一名16岁男孩因自幼双眼视力差就诊于眼科门诊。双眼瞳孔呈梨形，裂隙灯检查发现左眼瞳孔缘6至7点处有一个约1.5mm×2mm的色素性虹膜囊肿。眼底检查双眼分别有一个大的扇形脉络膜缺损，累及视神经和黄斑区。超声生物显微镜检查显示左眼有三个囊肿，囊壁高反射且管腔低反射清晰，一个位于虹膜前表面，另外两个位于虹膜后表面。最重要的是，他无手术、外伤、感染、肿瘤或用药史。因此，诊断为原发性色素性虹膜上皮囊肿。鉴于患者无症状，对视力功能无影响，对其囊肿进行了观察。经过2年随访，囊肿保持稳定。
虹膜囊肿，无论是原发性还是继发性，都是诊断和治疗的挑战。原发性虹膜囊肿大多位于虹膜睫状体沟和睫状冠，通常无症状，少数向前或较大，表现为虹膜周围局部隆起。该患者无眼部手术或外伤史，因此，结合临床表现和影像学检查结果，诊断为原发性色素性虹膜上皮囊肿。对于该患者，一方面手术风险高，术后虹膜囊肿可能复发，术后视力可能无改善。另一方面，患者眼底情况差且家庭经济条件不好。此外，该患者的虹膜囊肿经过2年观察保持稳定，因此未采取治疗措施。
眼科医生应了解这种罕见但独特的表现，尤其是在无症状患者中。及时诊断和治疗对于确保受这些葡萄膜异常影响的个体获得良好预后并预防进一步的眼部并发症至关重要。
