关键词: autosomal dominant genetic disorder axenfeld-rieger syndrome genetic counseling glaucoma vernal keratoconjunctivitis

来  源:   DOI:10.7759/cureus.25128   PDF(Pubmed)

Abstract:
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant condition characterized by the dysgenesis of the anterior segment along with some systemic abnormalities such as dental and facial bone defects. Its incidence is thought to be 1 in 200,000. Treatment is predominantly the management of glaucoma and is mostly medical but can be surgical in refractory cases. Here, we describe the case of a 35-year-old female patient who presented with co-existing vernal keratoconjunctivitis and ARS. The treatment was more challenging as we had to manage two conditions simultaneously.
摘要:
Axenfeld-Rieger综合征(ARS)是一种罕见的常染色体显性遗传病,其特征是眼前节的发育不全以及一些系统性异常,例如牙齿和面部骨缺损。它的发病率被认为是200,000分之一。治疗主要是青光眼的治疗,主要是内科治疗,但在难治性病例中可以手术治疗。这里,我们描述了一例35岁女性患者,该患者同时出现春季角膜结膜炎和ARS.治疗更具挑战性,因为我们必须同时处理两种情况。
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