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Axenfeld-Rieger anomaly is a form of iridocorneal dysgenesis. While angle dysgenesis is primarily attributed to the absent neural crest anlage differentiation and the failure of posterior migration of the iris-ciliary body complex, iris hypoplasia is restricted to the stroma because of an arrested migration of the periocular mesenchyme.1 These have been primarily studied with animal models using molecular and histopathological techniques. We present a case of Axenfeld-Rieger anomaly diagnosed based on the typical clinical features, which on anterior segment swept source imaging (SS-1000; CASIA; Tomey Corporation) recapitulated the embryological events. It showed an anteriorly inserted iris with absent angle differentiation (neurocristopathy) and selective absence of iris stroma (missing mesenchyme) (Figure) in contrast to the well-developed iris pigment epithelium and iris musculature, which were derivatives of the neuroectoderm.
A, Slitlamp photograph showing posterior embryotoxon (white arrowhead), temporal iris hypoplasia (white asterisk), bridging iris strands (black asterisk) and dyscoria (blue arrowhead). B, Swept source anterior segment optical coherence tomography image in which angle dysgenesis (yellow arrowhead) and selective absence of iris stroma (magenta arrowhead) sparing the pigment epithelium (blue arrowhead) and iris musculature (white arrowhead) is strikingly evident.
Corresponding Author: Dewang Angmo, MD, Glaucoma Research Facility & Clinical Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Room 374, 3rd Floor, New Delhi, India (firstname.lastname@example.org).
Conflict of Interest Disclosures: None reported.
Selvan H, Angmo D, Sharma A. The Missing Mesenchyme Captured—Axenfeld-Rieger Anomaly. JAMA Ophthalmol. 2019;137(5):e184507. doi:10.1001/jamaophthalmol.2018.4507
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