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From: Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with FOXC1 and PITX2
Mutations
Invest. Ophthalmol. Vis. Sci.. 2007;48(1):228-237. doi:10.1167/iovs.06-0472
Figure Legend:
Ocular characteristics of patients with Axenfeld-Rieger Malformation. (A) Left eye of a patient with FOXC1 duplication
shows marked iris stroma hypoplasia with exposure of the sphincter muscle. (Reprinted, with permission from Gould DB,
Mears AJ, Pearce WG, Walter MA. Autosomal Dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet.
1997;61:765–768. © American Medical Association). (B) Right eye of a patient with FOXC1 mutation shows marked iris
stroma hypoplasia with exposure of the sphincter muscle (generously provided by Elise Héon, University of Toronto,
Ontario, Canada). (C) Left eye of a patient with PITX2 mutation shows displaced pupil, iris atrophy, polycoria, prominent
andofdisplaced
embryotoxon)
(generously
provided
by Ordan Lehmann,
University
Date
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8/12/2017 line (posterior
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