White, S.Taranath, A.Hanagandi, P.Taranath, D.A.To, M.-S.Souzeau, E.Siggs, O.M.Craig, J.E.2023-09-182023-09-182023American Journal of Neuroradiology, 2023; 44(10):1231-12350195-61081936-959Xhttps://hdl.handle.net/2440/139483Published September 7, 2023Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the association between Axenfeld-Rieger syndrome and specific brain MR imaging neuroradiologic anomalies in cases with or without a genetic diagnosis. This case series included 8 individuals with pathogenic variants in FOXC1; 2, in PITX2; and 2 without a genetic diagnosis. The most common observation was vertebrobasilar artery dolichoectasia, with 46% prevalence. Other prevalent abnormalities included WM hyperintensities, cerebellar hypoplasia, and ventriculomegaly. Vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs were reported in >50% of individuals with FOXC1 variants compared with 0% of PITX2 variants. Notwithstanding the small sample size, neuroimaging abnormalities were more prevalent in individuals with FOXC1 variants compared those with PITX2 variants.en© 2023 American Society of Neuroradiology. Indicates open access to non-subscribers at www.ajnr.orgAnterior Eye SegmentHumansEye AbnormalitiesEye Diseases, HereditaryHomeodomain ProteinsTranscription FactorsMagnetic Resonance ImagingAdolescentAdultMiddle AgedChildChild, PreschoolInfantFemaleMaleForkhead Transcription FactorsYoung AdultNeuroimagingHomeobox Protein PITX2Journal article10.3174/ajnr.A79952023-09-14655419White, S. [0000-0001-9374-3492]