Shaheen Gulrukh, Fleischman David
UNC Kittner Eye Center, 2226 Nelson Hwy, Chapel Hill, NC, 27517, USA.
Am J Ophthalmol Case Rep. 2022 Nov 30;29:101762. doi: 10.1016/j.ajoc.2022.101762. eCollection 2023 Mar.
In this report, we describe a case of juvenile open angle glaucoma in a patient with Rett syndrome.
A 39- year-old white woman with a notable history of Rett syndrome was referred to our center with a ten-year diagnosis of juvenile open angle glaucoma. Initial exam was notable for complete cupping of the optic nerve. Upon follow up visits, intraocular pressures were elevated and remained refractory to multiple therapies, including SLT and pressure-lowering drops. Medical management was continued due to the risk of surgery and limited visual potential. Because it was declared that patient did not have substantial feedback to visual stimuli and did not exhibit any signs of pain, conservative management with drops was continued.
This is the first report of a patient with concurrent Rett syndrome and juvenile open angle glaucoma, thus expanding on the literature of an ocular manifestation occurring presumably coincidentally with this disorder.
在本报告中，我们描述了一例患有雷特综合征的青少年开角型青光眼患者。
一名39岁有显著雷特综合征病史的白人女性因青少年开角型青光眼的十年诊断结果被转诊至我们中心。初次检查时视神经完全凹陷显著。在后续随访中，眼压升高，并且对包括选择性激光小梁成形术（SLT）和降压滴眼液在内的多种治疗均无反应。由于手术风险和有限的视力潜能，继续进行药物治疗。由于宣称患者对视觉刺激没有实质性反应且未表现出任何疼痛迹象，因此继续采用滴眼液进行保守治疗。
这是首例并发雷特综合征和青少年开角型青光眼的患者报告，从而扩充了可能与此疾病巧合发生的眼部表现的文献。
