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Ophthalmic Images
May 9, 2019

The Missing Mesenchyme Captured—Axenfeld-Rieger Anomaly

Author Affiliations
  • 1Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India
JAMA Ophthalmol. 2019;137(5):e184507. doi:10.1001/jamaophthalmol.2018.4507

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.

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