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Research ArticlePediatrics

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

N.K. Desai, S.F. Kralik, J.C. Edmond, V. Shah, T.A.G.M. Huisman, M. Rech and C.P. Schaaf
American Journal of Neuroradiology February 2023, 44 (2) 212-217; DOI: https://doi.org/10.3174/ajnr.A7758
N.K. Desai
aFrom the Department of Radiology (N.K.D., S.F.K., T.A.G.M.H.), Texas Children’s Hospital Baylor College of Medicine Houston, Texas
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  • ORCID record for N.K. Desai
S.F. Kralik
aFrom the Department of Radiology (N.K.D., S.F.K., T.A.G.M.H.), Texas Children’s Hospital Baylor College of Medicine Houston, Texas
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J.C. Edmond
bDepartment of Ophthalmology (J.C.E.), Dell Medical School, The University of Texas at Austin, Austin, Texas
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V. Shah
cDepartment of Ophthalmology (V.S.), Cincinnati Children’s Hospital, Cincinnati, Ohio
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T.A.G.M. Huisman
aFrom the Department of Radiology (N.K.D., S.F.K., T.A.G.M.H.), Texas Children’s Hospital Baylor College of Medicine Houston, Texas
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M. Rech
dSleep and Anxiety Center of Houston (M.R.), Department of Psychology, University of Houston, Houston, Texas
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C.P. Schaaf
eInstitute of Human Genetics, Heidelberg University (C.P.S.), Heidelberg, Germany
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Abstract

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.

ABBREVIATIONS:

BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
COUP-TFI
chicken ovalbumin upstream promoter transcription factor 1
  • © 2023 by American Journal of Neuroradiology
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American Journal of Neuroradiology: 44 (2)
American Journal of Neuroradiology
Vol. 44, Issue 2
1 Feb 2023
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Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
N.K. Desai, S.F. Kralik, J.C. Edmond, V. Shah, T.A.G.M. Huisman, M. Rech, C.P. Schaaf
American Journal of Neuroradiology Feb 2023, 44 (2) 212-217; DOI: 10.3174/ajnr.A7758

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Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
N.K. Desai, S.F. Kralik, J.C. Edmond, V. Shah, T.A.G.M. Huisman, M. Rech, C.P. Schaaf
American Journal of Neuroradiology Feb 2023, 44 (2) 212-217; DOI: 10.3174/ajnr.A7758
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