PT  - JOURNAL ARTICLE
AU  - N.K. Desai
AU  - S.F. Kralik
AU  - J.C. Edmond
AU  - V. Shah
AU  - T.A.G.M. Huisman
AU  - M. Rech
AU  - C.P. Schaaf
TI  - Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
AID  - 10.3174/ajnr.A7758
DP  - 2023 Feb 01
TA  - American Journal of Neuroradiology
PG  - 212--217
VI  - 44
IP  - 2
4099  - http://www.ajnr.org/content/44/2/212.short
4100  - http://www.ajnr.org/content/44/2/212.full
SO  - Am. J. Neuroradiol.2023 Feb 01; 44
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