Structural brain abnormalities in 12 persons with aniridia [version 2; peer review: 2 approved]
Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well characterized, but mounting evidence has impl...
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Published in | F1000 research Vol. 6; p. 255 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
London
Faculty of 1000 Ltd
2017
F1000Research F1000 Research Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the
PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well characterized, but mounting evidence has implicated brain-related phenotypes as a prominent feature of this disorder as well. Investigations using neuroimaging in aniridia patients have shown reductions in discrete brain structures and changes in global grey and white matter. However, limited sample sizes and substantive heterogeneity of structural phenotypes in the brain remain a challenge.
Methods: Here, we examined brain structure in a new population sample in an effort to add to the collective understanding of anatomical abnormalities in aniridia. The current study used 3T magnetic resonance imaging to acquire high-resolution structural data in 12 persons with aniridia and 12 healthy demographically matched comparison subjects.
Results: We examined five major structures: the anterior commissure, the posterior commissure, the pineal gland, the corpus callosum, and the optic chiasm. The most consistent reductions were found in the anterior commissure and the pineal gland; however, abnormalities in all of the other structures examined were present in at least one individual.
Conclusions: Our results indicate that the anatomical abnormalities in aniridia are variable and largely individual-specific. These findings suggest that future studies investigate this heterogeneity further, and that normal population variation should be considered when evaluating structural abnormalities. |
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Bibliography: | new_version ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 AMB and JDL conceived this study as part of a large neuroimaging effort in this clinical population. JEP provided technical expertise on MRI imaging and data acquisition, and assisted AMB with experimental design and data collection. MKG analyzed the data first followed by JDW, who analyzed the data second (independently) to determine structural abnormalities in each brain. MKG and AMB prepared the first draft of the manuscript. All authors were involved in the revisions of the draft manuscript and have agreed to the final content. Competing interests: No competing interests were disclosed. |
ISSN: | 2046-1402 2046-1402 |
DOI: | 10.12688/f1000research.11063.2 |