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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Fig. 2

Ocular clinical features of affected family members with Axenfeld-Rieger syndrome. Anterior segment photography (a, b and c) showed different degrees of pupil deformation iris hypoplasia in both eyes and iris atrophy in both eyes for II-1 and II-2 and in the left eye for I-2. Adherent leukoma was observed in the right eye for I-2. Ultrasound biomicroscopy (d, e and f) demonstrated a shallow anterior chamber and different degrees of iris atrophy for I-2, II-1 and II-2. Fundus photography (g, h and j) of the left eye for the three affected members revealed abnormal CD ratio of 0.8 for I-2, 1.0 for II-1 and 0.5 for II-2

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BMC Medical Genetics

ISSN: 1471-2350

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