Owen M. Siggs

Sep 7, 2023 | ajnr.org | Samuel White |Owen M. Siggs |Jamie Craig

ABBREVIATION:ARSAxenfeld-Rieger syndromeAxenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic condition associated with multisystemic features.

Jul 7, 2023 | nature.com | Owen M. Siggs

AbstractNanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in TMEM98 have been associated with autosomal dominant nanophthalmos in multiple kindreds, but definitive evidence for causation has been limited. Here we used CRISPR/Cas9 mutagenesis to recreate the human nanophthalmos-associated TMEM98 p.(Ala193Pro) variant in mice.