A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.
Banu BozkurtOzkan BağcıSema ÜzümTülin ÇoraPublished in: Ophthalmic genetics (2024)
We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.