Tripathy Koushik, Salini Baby
ASG Eye Hospital, BT Road, Kolkata, India
Ahalia Foundation Eye Hospital
In 920, the German ophthalmologist Theodor Axenfeld made an important contribution to the field by describing a prominent and anteriorly displaced Schwalbe line (posterior embryotoxon) with the adhesion of peripheral iris strands. Later, these observations became known as the Axenfeld anomaly. Another significant advancement came from the Austrian ophthalmologist Herwigh Rieger, who described a distinct set of ocular abnormalities known as the "Rieger anomaly." This anomaly encompasses posterior embryotoxon, iris hypoplasia, polycoria, and corectopia. The constellation of systemic findings in conjunction with Rieger anomaly, such as dental abnormalities, facial bone changes, umbilical abnormalities, hypospadias, and pituitary abnormalities, was called Rieger syndrome. In current medical terminology, the terms Axenfeld anomaly, Rieger anomaly, and Rieger syndrome are no longer used. Instead, these ocular findings and associated systemic manifestations are now recognized under a spectrum of disorders called Axenfeld-Riger syndrome (ARS). ARS is a disease that encompasses anterior segment ocular dysgenesis and systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects. The mutations associated with ARS include PITX2 (chromosome 4q25), FOXC1 (chromosome 6p25), PAX6 (chromosome 11p13), FOXO1A (chromosome 13q14), and CYP1B1 (chromosome 2p22.2).
920年，德国眼科医生西奥多·阿克森费尔德对该领域做出了重要贡献，他描述了一条突出且向前移位的施瓦贝线（胚胎后毒素），伴有周边虹膜条索粘连。后来，这些观察结果被称为阿克森费尔德异常。另一项重大进展来自奥地利眼科医生赫维希·里格尔，他描述了一组独特的眼部异常，称为“里格尔异常”。这种异常包括胚胎后毒素、虹膜发育不全、多瞳症和瞳孔异位。与里格尔异常相关的一系列全身表现，如牙齿异常、面部骨骼变化、脐部异常、尿道下裂和垂体异常，被称为里格尔综合征。在当前医学术语中，阿克森费尔德异常、里格尔异常和里格尔综合征这些术语不再使用。相反，现在这些眼部表现和相关的全身表现被归为一种称为阿克森费尔德-里格尔综合征（ARS）的疾病谱系。ARS是一种包括眼前段眼部发育异常和全身异常的疾病，如牙齿、心脏、颅面和腹壁缺陷。与ARS相关的突变包括PITX2（4号染色体q25）、FOXC1（6号染色体p25）、PAX6（11号染色体p13）、FOXO1A（13号染色体q14）和CYP1B1（2号染色体p22.2）。
