Article
A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.
Ophthalmic genetics - 1 Aug 2020
Kletke Stephanie N, Vincent Ajoy, Maynes Jason T, Elbaz Uri, Mireskandari Kamiar, Lam Wai-Ching, Ali Asim
Abstract excerpt
BACKGROUND: Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1. MATERIALS AND METHODS: Single retrospective case report. RESULTS: A full-term infant presented at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with development...
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