Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature

ABSTRACT

Purpose: To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies. Methods: 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. Results: 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. Conclusions: 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.

Keywords:

• Axenfeld-Reieger syndrome
• Developmental glaucoma
• Viral keratouveitis.

DECLARATION OF INTEREST

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.