Posterior segment findings in Axenfeld-Rieger syndrome

Adam Jacobson; Brenda L. Bohnsack

doi:10.1016/j.jaapos.2022.08.263

Posterior segment findings in Axenfeld-Rieger syndrome

Adam Jacobson, Brenda L. Bohnsack^*

^*Corresponding author for this work

Ophthalmology

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.[Formula

Original language	English (US)
Pages (from-to)	320-322
Number of pages	3
Journal	Journal of AAPOS
Volume	26
Issue number	6
DOIs	https://doi.org/10.1016/j.jaapos.2022.08.263
State	Published - Dec 2022

ASJC Scopus subject areas

Ophthalmology
Pediatrics, Perinatology, and Child Health

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10.1016/j.jaapos.2022.08.263

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title = "Posterior segment findings in Axenfeld-Rieger syndrome",

abstract = "Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.[Formula",

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AU - Jacobson, Adam

AU - Bohnsack, Brenda L.

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N2 - Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.[Formula

AB - Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.[Formula

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Posterior segment findings in Axenfeld-Rieger syndrome

Abstract

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