A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Conclusions: It is important to consider mutations in PITX2 in atypical cases of anterior segment dysgenesis that also present with abnormalities in the angiogenesis of the anterior and posterior segments. PMID: 32429730 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32429730?dopt=Abstract

Source: Ophthalmic Genetics - May 22, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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