Pediatric Glaucoma With Anterior Segment Dysgenesis
For patients with conditions involving anterior segment dysgenesis (eg, aniridia, Axenfeld-Rieger syndrome, Peters anomaly, nail-patella syndrome), the proband should be tested for mutations in FOXC1 (forkhead box C1), PITX2 (paired-like homeodomain transcription factor 2), PAX6 (paired box 6), and LMX1B (LIM homeobox transcription factor 1 beta). These genes are all important in the development of the eye and other structures. The order of the genetic testing is prioritized according to the patient’s clinical features. Once a mutation has been identified, the entire family (both affected and unaffected members) can be screened. Unaffected family members may be identified as carriers of the mutation and informed of the potential risk to any future offspring. Together, PITX2 and FOXC1 mutations account for 50% of the glaucoma cases associated with anterior segment dysgenesis. The variable interaction between these 2 genes may underlie the diverse phenotypic expression associated with Axenfeld-Rieger syndrome. Over 80% of patients with aniridia have mutations in PAX6. Peters anomaly has been linked to mutations in PITX2, FOXC1, CYP1B1, and PAX6.
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Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.