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Common neuroimaging findings in Bosch-Boonstra-Schaaf optic atrophy syndrome

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 ne...

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Main Authors: Desai, Nilesh (Author) , Kralik, S. F. (Author) , Edmond, J. C. (Author) , Shah, V. (Author) , Huisman, T. a. G. M. (Author) , Rech, M. (Author) , Schaaf, Christian P. (Author)
Format: Article (Journal)
Language:English
Published: February 1, 2023.
In: American journal of neuroradiology
Year: 2023, Volume: 44, Issue: 2, Pages: 212-217
ISSN:1936-959X
DOI:10.3174/ajnr.A7758
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3174/ajnr.A7758
Verlag, lizenzpflichtig, Volltext: https://www.ajnr.org/content/44/2/212
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Author Notes:N.K. Desai, S.F. Kralik, J.C. Edmond, V. Shah, T.a.G.M. Huisman, M. Rech, and C.P. Schaaf
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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.
Item Description:Gesehen am 16.11.2023
Physical Description:Online Resource
ISSN:1936-959X
DOI:10.3174/ajnr.A7758

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