Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Axenfeld-Rieger Syndrome (ARS) is comprised of a group autosomal dominant disorders that are each characterized by anterior segment abnormalities the eye. Mutations in transcription factors FOXC1 or PITX2 most well-studied genetic manifestations this syndrome.Due to rarity syndrome, ARS-associated neurological have not been well characterized. The purpose systematic review characterize and describe ARS neurologic affect cerebral vasculature their early late sequelae.PRISMA guidelines were followed; studies meeting inclusion criteria analyzed for study design, evidence level, number patients, patient age, whether patients related, genotype, ocular findings, nervous system specifically neurostructural neurovascular manifestations.63 met criteria, 60 (95%) case series. gene was commonly found, followed COL4A1, then PITX2. described structural findings white matter 26 (41.3%) studies, Dandy-Walker Complex 12 (19%), agenesis corpus callosum 11 (17%). Neurovascular examined 6 (9%) identifying stroke, small vessel disease (CSVD), tortuosity/dolichoectasia arteries, among others, with no mention moyamoya.This first investigating genetic, neurological, associations ARS. Structural common, yet often benign, perhaps limiting utility MRI screening. abnormalities, stroke CSVD, identified population. Stroke risk present presence absence cardiac comorbidities. These suggest relationship between findings; however, larger scale necessary inform therapeutic decisions.