Papilledema from gain-of-function mutations in the STAT3 gene.

CONCLUSIONS: Papilledema can occur as a manifestation of STAT3 gain-of-function mutation, sometimes accompanied by prominent vascular sheathing and cystoid macular edema. The mechanism may be chronic meningeal infiltration by white blood cells, impairing cerebrospinal fluid absorption.
PMID: 30942636 [PubMed - as supplied by publisher]

Source: Ophthalmic Genetics - April 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research