Axenfeld - Rieger syndrome with spontaneous hyphema – A rare presentation and its association with COL4A1 mutation

Abstract

We report an unusual presentation of spontaneous hyphema in a young male with Axenfeld − Reiger syndrome (A-R syndrome) and developmental glaucoma. This rare presentation of A-R syndrome with spontaneous hyphema and dilated iris vasculature has been reported in mice eyes with COL4A1 mutation, but not in human eyes.

Keywords

• axenfeld − reiger syndrome
• col4a1
• spontaneous hyphema