Morya Arvind Kumar, Ramesh Prasanna Venkatesh, Sinha Sony, Nishant Prateek, Nain Nazia, Ramavath Ravi Naik, Gone Chetana, Prasad Ripunjay
Department of Ophthalmology, All India Institute of Medical Sciences, Bibi Nagar, Hyderabad 508126, Telangana, India.
Glaucoma Medical Officer, Mahathma Eye Hospital Private Limited, Thennur, Trichy 620017, Tamil Nadu, India.
World J Clin Cases. 2023 Oct 16;11(29):7034-7042. doi: 10.12998/wjcc.v11.i29.7034.
Axenfeld-Rieger syndrome (ARS) is a rare cause of congenital glaucoma and may result in loss of vision. ARS is mostly autosomal dominant in nature characterized by developmental abnormalities in the angle of anterior chamber and iris of the eye, also associated with structural abnormalities in the body.
To study and observe the demographics and clinical findings in a very rare ocular disease known as ARS.
Case records of symptomatic patients attending Ophthalmology outpatient department and diagnosed to have ocular hypertension or glaucoma in 3 years from March 2017 to March 2020 were evaluated to search for cases diagnosed with ARS. Records of all patients diagnosed with ARS were then analysed for demographic and clinical characterization as well as management and success of therapy.
Eight out of ten patients with positive clinical signs were symptomatic and had glaucoma. One of these patients had limbal stem cell deficiency and another had vernal keratoconjunctivitis.
Clinical characterization of ARS is important for making a definitive diagnosis and determining prognosis.
Axenfeld-Rieger综合征（ARS）是先天性青光眼的罕见病因，可能导致视力丧失。ARS本质上大多为常染色体显性遗传，其特征为眼前房角和虹膜发育异常，也与身体结构异常有关。
研究并观察一种名为ARS的罕见眼病的人口统计学特征和临床发现。
对2017年3月至2020年3月3年间到眼科门诊就诊且被诊断为高眼压症或青光眼的有症状患者的病例记录进行评估，以查找诊断为ARS的病例。然后对所有诊断为ARS患者的记录进行分析，以了解其人口统计学和临床特征以及治疗管理和疗效。
10例有阳性临床体征的患者中有8例有症状且患有青光眼。其中1例患者有角膜缘干细胞缺乏症，另1例患有春季角结膜炎。
ARS的临床特征对于做出明确诊断和确定预后很重要。
