Posterior segment findings in Axenfeld-Rieger syndrome.
J AAPOS
; 26(6): 320-322, 2022 12.
Article
em En
| MEDLINE
| ID: mdl-36152758
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.
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1
Base de dados:
MEDLINE
Assunto principal:
Oftalmopatias Hereditárias
/
Anormalidades do Olho
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article