Rao Aparna, Padhy Debananda, Sarangi Sarada, Das Gopinath
a Glaucoma Service , LV Prasad Eye Institute , Bhubaneswar , Odisha , India.
b Glaucoma Diagnostics Service , LV Prasad Eye Institute , Bhubaneswar , Odisha , India.
Semin Ophthalmol. 2018;33(3):300-307. doi: 10.1080/08820538.2016.1208767. Epub 2016 Dec 8.
To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies.
This retrospective study included those with atypical or overlapping features in one or both eyes, which were identified as unclassified ASD. Typical ARS was defined as the presence of posterior embryotoxon with or without iris changes like stromal hypoplasia, corectopia, polycoria, or ectropion uvea with or without systemic features. Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened.
Of 56 cases of ARS seen over 10 years, a total of 17 eyes of 11 cases (M:F=9:2, unilateral n=3) with unclassified ASD were identified with a median age of patients of 28.45±17.75 years (range 6-30 years). All cases of unclassified ASD had the presence of focal atypical strands of non-progressive anterior synechiae extending from the iris mid-periphery to the cornea with no attachments to the Schwalbe's line in any case. Adjacent keratic precipitates or pigment were present in three eyes with focal beaten metal appearance in one eye. Three patients developed repeated episodes of anterior uveitis in one eye with stromal involvement seen in all cases, which responded to antiviral therapy.
Atypical features like focal strands with differential corneal involvement and onset of viral uveitis in unclassified ARS suggest a possible viral etiology during different periods of eye development.
报告具有Axenfeld-Rieger综合征重叠特征及其他发育异常的未分类前段发育异常的前段特征。
这项回顾性研究纳入了一只或两只眼睛具有非典型或重叠特征的患者，这些患者被确定为未分类的前段发育异常（ASD）。典型的Axenfeld-Rieger综合征（ARS）定义为存在后胚胎环，伴有或不伴有虹膜改变，如基质发育不全、虹膜异位、多瞳症或虹膜外翻，伴有或不伴有全身特征。将具有ARS重叠特征与其他ASD的病例纳入并进行筛查，这些病例包括一只或两只眼睛出现无虹膜（虹膜完全或部分缺失）、虹膜角膜内皮（ICE）综合征（角膜内皮呈金属样外观）、彼得斯异常、孤立性小梁发育异常（表现为哈布氏纹、牛眼和溢泪），同时在同一只或另一只眼睛具有其他典型ARS特征。
在10年期间观察到的56例ARS病例中，共识别出11例（男:女 = 9:2，单侧3例）未分类ASD患者的17只眼睛，患者中位年龄为28.45±17.75岁（范围6 - 30岁）。所有未分类ASD病例均存在从虹膜中周部延伸至角膜的局限性非进行性前粘连的非典型条索，且在任何情况下均未附着于施瓦贝线。三只眼睛有相邻的角膜后沉着物或色素沉着，一只眼睛有局限性金属样外观。三名患者一只眼睛反复发生前葡萄膜炎，所有病例均可见基质受累，对抗病毒治疗有反应。
未分类ARS中出现的如局限性条索伴不同程度角膜受累及病毒性葡萄膜炎发作等非典型特征提示在眼睛发育的不同阶段可能存在病毒病因。
