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

Overview

Journal AJNR Am J Neuroradiol

Specialty Neurology

Date 2023 Jan 26

PMID 36702506

Authors

N K Desai

S F Kralik

J C Edmond

V Shah

T A G M Huisman

M Rech

C P Schaaf

Affiliations

Soon will be listed here.

Abstract

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in (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.

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