Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series

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dc.contributor.authorWhite, S.
dc.contributor.authorTaranath, A.
dc.contributor.authorHanagandi, P.
dc.contributor.authorTaranath, D.A.
dc.contributor.authorTo, M.-S.
dc.contributor.authorSouzeau, E.
dc.contributor.authorSiggs, O.M.
dc.contributor.authorCraig, J.E.
dc.date.issued2023
dc.descriptionPublished September 7, 2023
dc.description.abstractAxenfeld-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.
dc.description.statementofresponsibilitySamuel White, Ajay Taranath, Prasad Hanagandi, Deepa A. Taranath, Minh-Son To, Emmanuelle Souzeau, Owen M. Siggs and Jamie E. Craig
dc.identifier.citationAmerican Journal of Neuroradiology, 2023; 44(10):1231-1235
dc.identifier.doi10.3174/ajnr.A7995
dc.identifier.issn0195-6108
dc.identifier.issn1936-959X
dc.identifier.orcidWhite, S. [0000-0001-9374-3492]
dc.identifier.urihttps://hdl.handle.net/2440/139483
dc.language.isoen
dc.publisherAmerican Society of Neuroradiology
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1116360
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1154824
dc.rights© 2023 American Society of Neuroradiology. Indicates open access to non-subscribers at www.ajnr.org
dc.source.urihttps://doi.org/10.3174/ajnr.a7995
dc.subjectAnterior Eye Segment
dc.subjectHumans
dc.subjectEye Abnormalities
dc.subjectEye Diseases, Hereditary
dc.subjectHomeodomain Proteins
dc.subjectTranscription Factors
dc.subjectMagnetic Resonance Imaging
dc.subjectAdolescent
dc.subjectAdult
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectInfant
dc.subjectFemale
dc.subjectMale
dc.subjectForkhead Transcription Factors
dc.subjectYoung Adult
dc.subjectNeuroimaging
dc.subjectHomeobox Protein PITX2
dc.titleNeuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
dc.typeJournal article
pubs.publication-statusPublished

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