RT Journal Article
SR Electronic
T1 Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 212
OP 217
DO 10.3174/ajnr.A7758
VO 44
IS 2
A1 N.K. Desai
A1 S.F. Kralik
A1 J.C. Edmond
A1 V. Shah
A1 T.A.G.M. Huisman
A1 M. Rech
A1 C.P. Schaaf
YR 2023
UL http://www.ajnr.org/content/44/2/212.abstract
AB SUMMARY: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental and cognitive delay, and seizures. This study reports common neuroimaging findings in a cohort of 21 individuals with BBSOAS that collectively suggest the diagnosis. These include mesial temporal dysgyria, perisylvian dysgyria, posterior predominant white matter volume loss, callosal abnormalities, lacrimal gland abnormalities, and optic nerve volume loss.BBSOASBosch-Boonstra-Schaaf optic atrophy syndromeCOUP-TFIchicken ovalbumin upstream promoter transcription factor 1